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Evolution of the brain and language

The anatomy of the brain is rather complex


At microscopic level, the brain is composed of billions of specialized cells called neurons
(nerve cells), which communicate with one another to from functional networks. A neuron
consists of a cell body and specialized processes called dendrites (witch receive inputs
from other neurons) and axons (outgrowths though which neurons send impulses to

other neurons)
At visible level, the cerebral cortex, the surface of the brain composed of neuron cell
bodies, is divided into a complex pattern of grooves and ridges called sulci and gyri
(sulcus), some of which can be used as landmarks to divide the brain into functional

regions
Two major parts of the brain : cerebellum and cerebrum
Cerebellum (little brain)
Sits tucked under the cerebrum
Control of balance, posture, and voluntary movements
Cerebrum
The largest part of the human brain
Split into left and right hemispheres
Seat of all higher brain function
Paleoneurology => the study of the evolution of brain structure and function
Endocast => impressions of the interior part of the cranium, from which we can make

inferences about the size and structure of the brain


Endocast are inevitably a poor reflection of the brains anatomy
Human cranial capacity : 1300-1400 cc
Human have the largest brains among primates. The second is gorillas

Encephalization quotient (EQ)

Harry Jerison and Robert Martin : have shown the relationship between brain size and

body size is somewhat more complicated than a simple linear relationship


EQ : the ratio of the actual brain size of a species to its expected brain size based on a

statistical regression of brain-to-body size based on large number of species


Mammals with EQ > 1.00 : have brain that are large than expected
Mammals with higher are in some sense smarter than those with lower EQs? Yes or no
Terrence deacon points out that the EQ is derived from both brain size and body size
and that there is a tendency to overlook the fact that animals face strong selection

pressures that shape body size as well as brain size


Chihuahua are more encephalized than german
Shepherd : Chihuahua is smarter than a german shepherd

Colobine monkeys have lower EQs than cercopithecine monkeys : there is no evidence
that colobine behavior is less sophisticated than cercopithecine. Colobine monkeys are
adapted to a leafy diet, this digestive requirement has drive selection for greater gut and

lady size, resulting in lower EQs


EQ is a potentially valuable indicator of cognitive
Sex difference in primate brain size : in amost all primate species, males have larger
brains than female. But there is no reason to suppose that there are profound
differences in behavioral sophistication between the sexes

Brain reorganization

As the brain has expanded, its functional organization has also changed
Ex : there are parts of the brain that are essential for normal language production.
Because other primates do not have language, obviously some reorganization of the
brain has accompanied the evolution of language ability

Reorganization can occur in three ways

An anatomical region of the brain associated with a specific function can become large

or smaller compared with the rest of the brain


Functional regions of the brain can shift or change position, independently of regional

expansion or contraction
New behaviours may lead to the evolution of new functional fields, which would supplant
or enhance previously existing functional associations in those areas

Olfactory bulbs

Control sense of smell


In human brain : small size. Wolves have olfactory bulbs that are 6 cc in volume (60 fold

advantage over the human)


Human reflect a basic trend in olfactory bulb reduction

Frontal lobes

Many brain investigators have argued that one of the largest regions of the brain, the
frontal lobe, has expanded over the course of hominid evolutions, relative to the rest of

the brain
Scientist believe that the prefrontal region the part of the frontal lobe that do not include

the primary motor regions has shown a marked relative expansion


Human may have a larger prefrontal region (frontal lobe) : functions of the frontal lobe
seem to coincide with mant of the higher functions that associate with intelligence, such

as forming goals and devising plans to attain them


Katerin Semendeferi et al (by MRI studies) indicate that the frontal lobe is not
proportionally large in

Primary visual regions

The part of the brain where visual information from the eyes in initially processed
The visual cortex is smaller than we would expect for a primate brain its size : 1,5 x

larger that visual cortex of a chimpanzee or gorilla, whole brain 3x large


The reduction and shift of the visual region in primates presumably has allowed the
expansion of the pariental cortex (region where sensory information from defferent

sources is processed and synthesized)


Controversy about reorganization of the visual region in hominid brain evolution has

been not about whether but about when it occurred


Raymond Dart (1992) : published his initial description of the occipital lobe is reliably
separated by lunate sulcus . in contrast, in human the lunate sulcus often is absent or

very poorly developed


Dart marked the lunate sulcus in a posterior, human like positions
Ralph Holloway and Dean Falk : darts positioning of the lunate was incorrect and that is

was in a more the lunate posting


Language is a socially derived, symbolic system of communication used to convey ideas
and wants, give orders, make comments, obtain information and name people, objects,

and events
Language is an adaptation
Language is spoken. We are anatomically specialized to produce language and process

language oriented sounds


Language is semantic. The words we use when speaking have meanings that represent

real world objects, events, or actions


Language is phonemic. World are made from small sound elements called phonemes

Language is grammatical. All language have a grammar, an implicit set of rules that
governs the way word classes are defined and used

Language in the brain

Brocas area
Located in front of the motor cortex which controls the muscles of vocal cord and
mouth
Lesion in brocas area : causes a disruption in speech production (an aphasia)
Wernickes area (carl wernicke)
Located in temporal lobe left side
Lesion in Wernickes area : have difficulties in speech comprehension. Produce
fluent but nonsensical speech, substituting one word for another or producing
incomprehensible strings of words

Genes & disease

Cancer : uncontrolled cell division


Cancer cells are abnormal in both structure and function
Cancer develops when gene change remove the normal controls over cell
division
Diagnosis, treatment, and prevention
Cancer is diagnosed by biopsy
Early detection increase the successful treatment
Lifestyle decisions that promote health can also limit a persons risk of
developing cancer
Major type of cancer
Cancer is categorized according to the type of tissue in which it first develops

Every organ system in the body is susceptible to cancer


A tissue overgrow an abnormal enlargement => Hyperplasia => Tumor
A tumor may not be cancer
Dysplasia (bad form) is an abnormal change in the sizes, shapes, and organization of

cells in a tissue
Heredity plays a major role in about 5 % of cancers (familial breast cancer, colorectal

cancer, and lung cancer)


Virus
Chemical carcinogens (products of industrial activities asbestos, vinyl chloride, and
benzene, also include hydrocarbons in cigrarette, substance in dyes and pesticides,

substance in fireplace soot, some plants & fungi, aflatoxin)


Radiation (sunlight, tanning lamps, medical & dental X-rays, some radioactive materials

used to diagnose diase)


Breakdown in immunity
To maximize the chances that a cancer can be cured, early diagnosis of cancer is

extremely important
Blood tests can detect Tumor Markers (substance produced by specific types of cancer

cells or by normal cells in response to the cancer)


Medical imaging (MRI, X-Ray, ultrasound, CT-Scan)
Biopsy
Chemotherapy & radiation
Anticancer drugs
Surgery
Avoid tobacco in any form, including secondary smoke from others
Maintain a desirable weight
Eat a low fat diet that includes plenty of vegetables and fruits
Drink alcohol in moderation
Learn whether your job or residence exposes you to such industrial agents as nickel,
chromate, vinyl chloride, benzene, asbestos, and agricultural pesticides, which are

associated with various cancers


Protect your skin from excessive sunlight

Evolution, adaptation, and adaptability

Species => subspecies => populations => individuals


Deme : local, interbreeding population that is defined in terms of its genetic composition

(for example allele frequencies)


Subspecies : group of local populations that share part of the geographic range of a
species, and can be differentiated from other subspecies based one or more phenotype

traits
Race : in biological taxonomy, same thing as a subspecies, when applied to humans,
sometimes incorporates both cultural and biological factors

Ethnobiology => the study of how traditional cultures classify objects and organism in natural
world

During 18th century, Linnaeus introduced a biological classification system tha formed the basis
of the one we use today. He provided a new name for our species (homo sapiens) and identified
5 subspecies :
Homo sapiens after (african)
Homo sapiens americanus (American Indians)

Homo sapiens asiaticus (Asians)


Homo sapiens europaeus (europaeans)
Homo sapiens ferus (wild men)
Linnaeus also identified a second species : homo monstrosus (included a variety of human and
apelike forms)

Blumenbach (with his collections of biological anthropological material) identified five races :

Caucasian (Caucasus region in present Georgia)


Mongolian
Ethiopian
American
Malayan

Monogenism

Environmentalism (the view that environment has great power to directly shape the
anatomy of individual organism)
Samuel Stanhope Smith : black in the Southern State
Field slaves darker the domestic slaves => civilization on the domestic slaves
European based civilization => people (African or Indians) take on a Europeanappearance

Polygenism

Samuel George Morton, Argued the 6000 years of eath history and the fact of the
different races (in ancient Egyptian monuments) ? => not enough time for the

differentiation to accur
Rejected the idea unlimited powers of environment

Polygenism monogenism debate subsided => publication of Darwins on the origin of species

Race and racism in the 21 th century

Study of human population variation was shaped by political and cultural forces
Racism : a prejudicial belief that members of one ethnis group are superior in some way
to those of another

Franz boas

In the early of 20 th century, investigated a reappraisal of the race concept


In the mind of primitive man => he argued that there was littlw evidence of strong
relationship between racial biology and cultural achievement

Features people that have been focused for so many years

Skin color
Eye form
Hair color and form
Head shape

Population genetics
The study of genetic variation within and between groups of organism
Concerned primarily with microevolution (the study of evolutionary phenomena that
occur within a species)

Polymorphism

Polymorphic : two or more distinct phenotypes (at the genetic or anatomical levels) that

exist within a population


There are at least 2 alleles present for a givens gene, and the alleles are both present at

a frequency greater than 1 %


Ex : polymorphic for eye color (blue and brown eyed people live in population)

Maternal fetal incompatibility

Mother with O blood type and her infant has type A, B, or AB, or when mother has type A

and the infant has type B


Ex : O mother and B infant (the father must carry a B allele) => mother doesnt possess
the B antigen, so she will make anti B antibodies upon exposure to the fetus blood.
When infant is born, he or she can be anemic because of the reduction in the number of
oxygen carrying red blood cells. This is known as hemolytic anemia

Levels of adaptability

Adaptability : the ability of an individual organism to make positive anatomical or


physiological changes after short term or long term exposure to stressful environmental

conditions
Acclimatization : the process of very short term change in physiology that occur in
response to change in environmental condition (ex : tanning)

Heat and cold

When people get too hot, the body responds through a process of vasolidation and

sweat
Heat stroke : when the core temperature of body reaches 41 C (105,8 F)
Heat wave in environment kill hundreds or even thousands of people => heat is a strong

selective force
Cold as strong selective force => temperatures go significantly below freezing. Death

from hypothermia (bodys core temperature falls to 31-32 C (88-89 F) )


Human can cope with temperatures in the freezing range via a combination of shivering
and vasoconstriction. Subcutaneous fat also helps insulate the core of the body from the
external cold

Body size and shape

Carl Bergmann and Joel Asaph Allen : there were predictable relationship between body

form, proportional and temperature


Bergmann => focus on body size. Colder the climate , the large the body
Allen => focus on the appendages of the body
Ex : limb should be longer relative to body size in warmer climates because that would
help to dissipate heat, and shorter limbs in colder climates would conserve body heat

Living at high altitude

Atmospheric pressure is much less at high altitude. Lower pressure : hemoglobin

molecules in red blood cells take in fewer oxygen molecules with each breath
The effects of altitude on oxygen availability start at around 2,500 m => hypoxia or
oxygen starvation

Skin color

Blood vessels located in the dermis. Cooling effects of the evaporation on sweat
Melanin : a dark pigment produced by the melanocytes of skin color
People with darker skin have more melanin in their epidermis, the most important

component of skin color


People with darker skin have more melanin in their epidermis than people with lighter

skin
Two most visible effects of UVR : sunburn and skin cancer
Melanin blocks or filters out incoming UV waves. People with more melanin or the ability
to temporarily produce more melanin in response to light are less susceptible to the

effects of UVR than people who has less melanin


People with dark skin cannot synthesize vitamin D efficiently ad people with lighter skin

The evolution of human behavior

Study of the evolution of the behavior => book adaptation and natural selection (G.C

William)
Edward O. Wilson published a book sociobiology : the new synthesis
Sociobiology => the science of the biological basis of social behavior

4 approaches the evolution of human behavior

Paleontological reconstruction of behavior


Based on the anatomy of extinct hominids and, when present, the archaeological
remains with they were associated
Based on correlations among behavior, anatomy, and ecology in nonhuman

primate species and in contemporary humans


Biocultural approaches
Cultural behavior has influence human evolution
Ex : development of dairying in some populations was a direct selective factor in
the evolution of close tolerance
Evolutionary psychology
Approach to understanding the evolutions of human behavior that emphasizes
the selection of specific behavioral pattern in the context of the environment of
evolutionary adaptedness (EEA)
According to evolutionary psychologist, the critical period for understanding the

selective forces that shape human behavior


Ex : hunter gatherer lifestyle of hominids before the advent of agriculture
Human evolutionary (or behavioral) ecology
Approach to understanding the evolution of human behavior that attemps to
explore ecological and demographic factors important in determining individual
reproductive success and fitness in a cultural context

Behavioral patterns and evolution

Cognitive universal

Cognitive phenomena such as sensory processing, the basic emotion,


consciousness, motor control, memory, and attention that are expressed by all

normal individual
Cross cultural universal
Behavioral phenomena that are found in almost all human cultures, but are not

necessarily exhibit by each member of a cultural group


Ex : singing, dancing, mental illness
Within culture variation
Variation in behavior within a culture
Ex : male and female mammals may adopt different sexual and reproductive
strategies because of their differential investment in time and energy in each

offspring
Biological constraints on human behavior
Unlike cross cultural universal => behavioral convergences # primary result of
biological processes
Ex : footwear
Evolutionary ecological perspective
Investigating the complex interplay between behavior, culture, and ecology, by
living for extended periods of time with the groups they are studying (as cultural

anthropologist do)
Evolutionary ecology research
Collect quantifiable data to discover how ecological factor affect human behavior.
Ex : birth, death, marriage statistic, nutritional data, calculations of daily energy
expenditure
Use sophisticated mathematical models to understand human cultural behavior
in an evolutionary context
Use data from multiple cultures to look at how ecological and environmental
variables interact to potentially influence the behavior of hunter gatherers

Evolutionary ecology research

Wealth, reproductive success, and survival


Cultural success < -- > increased fitness
William irons => study of fertility and mortality among the tribal Turkmen of Iran.
In this culture, wealth (money, jewelry, consumable goods) is a primary measure
of cultural success. Found that for men, fertility and survivorship were higher for
the wealthier half of the populations. Survivorship was significantly higher for the
wealthier woman, but there was no difference in fertility
Monique Borgerhoff Mulder => looked at the relationship between wealth and
reproductive success in Kipsigis of Kenya. The wealth of Kipsigis is defined in

terms of his land holdings, the number of animals he has, and his household
possessions. The Kipsigis men practice polygyny (a man can have more than
one wife at a time ). A man approaches the womans parents with an offer of
bridewealth (payment offered by a man to the parents of a woman he wants to
marry). Borgerhoff Mulder found a strong correlation between wealth and number
of offspring.
This correlations does not generally hold for developed, urbanized, capitalist
cultures, where higher socioeconomic status typically is not associated with a

higher birth rate


Physiology and ecology
Peter Ellison developed a method of measuring levels of reproductive function in
women living in diverse environments
Progesterone (a steroid hormones, which prepares the uterus for pregnancy and
helps maintain pregnancy once fertilizations has occurred). Progesterone levels
measure in saliva correlate with ovarian function. Ellison and his colleagues
found that salivary progesterone levels are strongly correlated with age over the
course of a womans reproductive life
Studies among the Lese of Zaire, the Tamang of Nepal, and women from boston
area, showed that the basic age dependent curve of salivary progesterone
production was the same in all three populations, but the amount of progesterone
produced varied among the groups
Study of Testosterone, male hormone

Hunting, gathering, and the sexual division of labor


Concept of man the hunter, women the gatherer reflects a division of labor between the sexes in
all human cultures, but observing sex differences in food acquisition practices is not the sane
as explaining why they exist. Both men and women devote a substantial portion of their time
and energy to the search for and acquisition of food (ex : aboriginal people of Mer Island in the
Coral Sea, both men and women forage for food on the coral reef)

Several models for the origins of the sexual division of labor :


Cooperative provisioning model. Predict that the sexual division of labor occurred as a
result of the evolution of monogamous relationships. Hominid males and females were
already exploiting the environment in fundamentally different ways before males began
contributing energy and resources to females and their young
Conflict model. It would allow the pair to more fully exploit the environment if they did not
compete wich each other for resources

Women and man do vary in the package size of the food they focus on acquiring.
Women concentrate on small foodstuffs, men concentrate on obtaining foods in large
sizes
Why do men hunt and share meat ? There 2 models :
- Tolerated theft model / costly signaling. Payoff : increased social prestige and access
-

to mates
Provisioning model. Payoff : food to kin enhances inclusive fitness

Sexual selection and human behavior

Research on human mate selection and standards of attractiveness in different cultures


indicates that women tend to value resource providing ability in their partners, whereas
men tend to value youth and appearance in their potential partners

Risk taking behavior

Across human cultures, a group of young adult males (age 15-29) have the highest

death rates from accidents or violence


Why males engage in risk taking behavior more than females? Bobbi Low argues that

the reason goes back to the general sex differences in mammalian biology
Female mammals likely to be able to find mates and fulfill her reproductive potential
throughout her lifetime. A male mammal may engage in high risk because such behavior
could have a potentially high reproductive benefit. Aggressive behavior between male

mammals over access to females


Elizabeth Hill and Krista Chow => among college age people : Risky drinking as 15 %
more common in men than women : the peak age for alcohol abuse in males is 15-29
years. College man who were not married were twice as likely to engage in binger
drinking as those who were married

Inbreeding avoidance and incest taboos

Inbreeding : production between close relatives


Highly inbred population => loses genetic variability over time => have fewer
opportunities to evolve balanced polymorphism => limit ability to respond genetically to

environmental changes
Studies of inbreeding in humans : show potentially harmful effects of reproduction

between first degree relatives (father and daughter, sister and brother)
Incest : a violation of cultural rules regulating mating behavior

Language related cross cultural behaviors


Motherese or infant directed speech

If human infants are placed in an environment where language is used, they will pass
through a series stage that, typically by the age of 3 years, result in a fully linguistically

competent human being


Different languages in different cultures, but same in their use of motherese or infant
directed speech. Tends to be slower, higher pitched, more repetitive, with shoter

utterances and longer pauses


Anne Fernald : motherese helps establish emotional communication between the mother
and infant before the development of verbal language

Behavioral disease

Depression and natural selection


Mood : persistent emotional state
Changes in mood in response to the environment or particular events are natural
Major depression : suffers from 2 or more weeks of depressed mood or impaired
enjoyment, disturbed sleep and appetite, psychomotor changes, reduced

concentration, excessive guilt, suicidal thoughts or actions


Minor depression as an adaptation
Randolph Nesse : minor depression or low mood is a psychological mechanism
that regulates our behavior when people are placed in any situation that might

constitute an adaptive challenge


Temporary low mood allowing people to establish new goals and direction
Schizophrenia
Cultural notion of crazy or insanity
Characterized by several symptoms : delusions, auditory hallucinations,
disorganized speech, grossly disorganized or catatonic behavior, negative
symptoms (emotional flattening, not talking, or not moving)
People with schizophrenia particularly males, have reduced fertility and fitness
Individual who carry schizophrenia causing alleles but who do not develop the
disease may have some characteristic that help them to reproductively
compensate for the loss of alleles in individuals who have full blown

schizophrenia
Evolutionary psychology theories about psychoactive substance use and abuse
Commonly consumed psychoactive substances : alcohol, tobacco, betel nut,
opium, coca and cocaine, cannabis (marijuana), caffeine, khat (chewed in East
Africa)

Much biological research on drug dependence has focused on the


neurotransmitter dopamine (important component of the pleasure and reward
system in the brain)
Individual with severe addiction problems more likely to carry an allele associated
with a reduction in the total number of dopamine receptors => need more
stimulus to derive a sense of reward or pleasure
Allele ALDH*2 found with frequency 35 % in the Japanese population. Case a
buildup of acetaldehyde in the body, leading to facial blushing and other
unpleasant side effects after even models alcohol consumption
Roger Sullivan and Ed Hagen : hominids have probably had a long term
evolutionary relationship with psychoactive substance

Character dan ciri yang diturunkan

Sex is a question of X or Y
Every normal egg that is produced by a female has an X chromosome
Half the sperm cells produced by a male carry an X chromosome and half carry Y

chromosome
The fathers sperm determine a babys sex
If an X bearing sperm fertilizes an X bearing egg => the embryo will develop into a

female
If the sperm has a Y chromosome, the embryo will develop into a male
When the gene is expressed, a sequence of steps leads to the formation of testes, the
primary male reproductive organs. When the gen is absent that is, when no Y

chromosome is present ovaries form automatically, and the developing embryo is female
Over the past century, hundreds and diseases have been cataloged, which can be
explained in term of Mendelian genetic transmission

Two copies of the gene must be mutated foe a person to be affected by an autosomal

recessive disorder
An affected person usually has unaffected parents who each carry a single copy of the

mutated gene (and are referred to as carriers)


Two unaffected people who each carry one copy of the mutated gene have a 25 %

chance with each pregnancy of having a child affected by the disorder


An affected person usually has unaffected parents who each carry a single copy of the

mutated gene (and are referred to as carriers)


Two unaffected people who each carry one copy of the mutated gene have a 25%

chance with each pregnancy of having a child affected by the disorder


Cystic fibrosis
Sickle cell disease
Phenylketonuria (PKU)
Inherited disease of the mucus and sweat glands
It effects mostly : lungs, pancreas, liver, intestines, sinuses, and sex organs
The mucus to be thick and sticky
The mucus clogs the lungs, causing breathing problems and making it easy for bacteria

to grow
this can lead to problems such as repeated lung infection and lung damage
50/100.000 births (European)
A disease in which your body produces abnormally shape red blood cells
The cells are shaped like a crescent or sickle
They dont last long as normal, round red blood cells, which leads to anemia
The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain

and organ damage


Sub-Saharan Africa, Spanish-speaking region in the Western Hemisphere (South
America, the Caribbean< and central America), Saudi Arabia, India, and Mediterranean

countries such as Turkey, Greece, and Italy


Most common in Ashkenazi (European) jews
Caused by an abnormal form of an enzyme that breaks down a fatty substance knows

as ganglioside GM2
It is toxic to nerve cells, and death usually occurs before 5 years of age
Infants with Tay-Sachs disease appear to develop normally for the first few month of life
Then, as nerve cells become distended with fatty material, a relentless deterioration of

mental and physical abilities occurs


The child becomes blind, deaf, and unable to swallow
Muscles begin to atrophy and paralysis sets in. other neurological symptoms include
dementia, seizures, and an increased startle reflex to noise

Phenylketonuria is a metabolic disease that is caused by a buildup of Phenylalanine in


the body due to an enzyme deficiency, particularly the hepatic enzyme Phenylalanine

Hydroxylase (PAH)
People with PKU can not convert the amino acid Phenylalanine to Tyrosine due to
mutation in the gene that codes for PAH One major symptom is Eczema, an irritating
and itchy rash on the skin, and a musky odor. Abnormally fair skin and hair as well as

hair loss are also very rare symptoms


In extreme cases, the afflicted child will experience seizures. If left untreated this disease

can cause severe mental retardation


Only one mutated copy of the gene is needed for a person to be affected by an

autosomal dominant disorder


Each affected person usually has one affected parent
There is a 50% chance that a child will inherit the mutated gene
Many disease conditions that are autosomal dominant have low penetrance, which
means that although only one mutated copy is needed, a relatively small proportion of

those who inherit that mutation go on to develop the disease, often later in life
Huntington disease
Neurofibromato sis type 1
Myotonic dystrophy
Achondroplasia
An inherited disease that causes certain nerve cells in the brain to waste away.

(polyglutamine expansion)
People are born with the defective gene, but symptoms usually dont appear until middle

age
Early symptoms of HD may include uncontrolled movements, clumsiness or balance

problems. Later, HD can take away the ability to walk, talk or swallow
Some people stop recognizing family members. Others are aware of their environment

and are able to express emotions


A condition characterized by changes in skin coloring (pigmentation) and the growth of

tumors along nerves in the skin, brain, and other parts of the body
The signs and symptoms of this condition vary widely among affected people
Causes mental retardation in about 10% of cases, and about half of afflicted individuals

have learning disabilities


Form of dwarfism caused by a failure to convert cartilage to bone, especially in long

bones
Individuals have a slightly enlarges head, with prominent forehead, and other physical

anomalies in addition to short stature


X-linked dominant disorder are cause by mutation in genes on the X chromosome. Only
a few disorder have this inheritance pattern. Females are more frequently affected than

males, and the chance of passing on an X-linked dominant disorder differs between men
and women. The sons of a man with an X-linked dominant disorder will not be affected,
and his daughter will all disorder has a 50% chance of having an affected daughter or
son with each pregnancy. Some X-linked dominant conditions, such as Aicardi
Syndrome, are fatal to boys, therefore only girl have them (and boys with Klinefelter

Syndrome)
Hypophosphatemia, Aicardi Syndrome
X-linked recessive disorder are also cause by mutations in genes on the X chromosome.
Males are more frequently affected than females, and the chance of passing on the
disorder differs between men and women. The sons of a man with an X-linked recessive
disorder will not be affected, and his daughters will carry one copy of the mutated gene.
With each pregnancy, a woman who carries an X-linked recessive disorder has a 50%
chance of having sons who are affected and a 50% chance of having daughters who

carry one copy of the mutated gene


Hemophilia A, Duchenne muscular dystrophy, color blindness, Turner Syndrome
Y-linked disorders are caused by mutations on the Y chromosome. Only males can get
them, and all of the sons of an affected father are affected. Since the Y chromosome is
very small, Y-linked disorders only cause infertility, and may be circumvented with the

help of some fertility treatments


Male infertility
This type of inheritance, also known as maternal inheritance, applies to genes in
mitochondrial DNA. Because only egg cells contribute mitochondria to the developing

embryo, only females can pass on mitochondrial conditions to their children


Lebers Hereditary Optic Neuropathy (LHON)
Fragile X syndrome
Hemophilia
Lesch Nyhan Syndrome

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