Principles of Heredity 11

Key Terms

Section 3.5: Geneticists Often Use Pedigrees to Study the Inheritance of Characteristics
in Humans
→ pedigree: pictorial representation of a family history, a family tree that outlines the inheritance
of one or more characteristics
→ proband: the person from whom the pedigree is initiated
→ symbols for Genetics
→ analysis of Pedigrees
● ‘Genetic sleuthing’
● Recognizing patterns associated with different modes of inheritance
→ an autosomal trait is one that is encoded on an autosome (non-sex chromosome)
● Autosomal recessive traits
● Autosomal dominant traits
→ autosomal recessive traits
● Usually appear with equal frequency in males and females
● Often skip generations
● More likely to appear among progeny of related parents
→ autosomal dominant traits
● Appear with equal frequency in males and females
● Unaffected persons do not transmit the trait
● Affected persons have at least one affected parent

QUESTION
Recessive traits often appear in pedigrees in which there have been consanguineous matings
because of these traits
a. Tend to skip generations
b. Appear only when both parents carry a copy of the allele for the trait, which is
more likely when the parents are related
c. Usually arise in children born to parents who are unaffected
d. Appear equally in males and females
Section 4.1: Sex is Determined by a Number of Different Mechanisms
→ sex determination
● sexual reproduction: alternates between haploid and
diploid states
● most organisms have two sexual phenotypes, male
and female
● there are several different mechanisms of sex
determination
● sex chromosomes
○ Differ between males and females
● non-sex chromosomes (autosomes)
● Same for males and females
→ chromosomal Sex-Determination Systems
● XX-XO Sex determination
○ XX: female
○ XO: male
○ Ex. Grasshoppers
■ Male produces 2 types o sperm (one type bears X, other has no sex
chromosome)
■ Sex is determined by sperm cell at fertilization
● XX-XY Sex Determination
○ XX: female
○ XY: male
○ Ex. mammals
■ The X and Y chromosomes are homologous only at pseudoautosomal
regions, which are essential for X-Y chromosome pairing in meiosis in the
male
■ Primary pseudo region: top of chromatids
■ Secondary pseudo: bottom of chromatids
● ZZ-ZW: Sex Determination
○ ZZ: male
○ ZW: Female
○ Ex. birds, snakes, butterflies, some amphibians, and fishes
→ genic Sex-Determining System
● No sex chromosomes, only the sex-determining genes
● Found in some plants, fungi, protozoans, and fish
→ environmental Sex Determination
● In many organisms, sex is determined fully
or in part by environmental factors
QUESTION
How do chromosomal, genic, and environmental sex determination differ?
● In chromosomal sex determination, males and females have chromosomes that
are distinguishable
● In genic sex determination, sex is determined by genes, but the chromosomes of
males and females are indistinguishable
● In environmental sex determination, sex is determined by environmental effects

→ sex determination is Drosophila melanogaster

● Balance system
● X: A ratio
● X is the number of X chromosomes
● A is the of haploid sets of autosomes

→ sex determinations in Humans

● XX-XY System
● SRY gene on the Y chromosome determines
maleness
● The gene Y linked because it is found only
on Y chromosome

→ the phenotypes from abnormal numbers of sex chromosomes:

● Turner syndrome: XO; 1/3000 female births
● Klinefelter syndrome: XXY, or XXXY, or XXYY;
1/1000 male births
● poly-X females: 1/1000 female births

QUESTION
In humans, what will be the phenotype of a person with XXXY sex chromosomes?
a. Klinnefelter syndrome
b. Turner syndrome
c. poly-X female

Section 4.2: Sex-Linked Characteristics are Determined by Genes on the Sex

Chromosomes
→ inheritance of sex-linked characteristics
● X-linked characteristics: Genes on the X chromosome
● Y-linked characteristics: Gene on the Y chromosome
→ X-linked characteristics
● X-linked white eye in Drosophila
○ Experiment
■ Question: are white eyes in fruit flies inherited as an autosomal recessive
trait?
■ Methods: perform reciprocal crosses
■ Conclusion: no. the results of reciprocal crosses are consistent with X-
linked inheritance
● X-linked color blindness in humans

QUESTION
Hemophilia (reduced blood clotting) is an X-linked recessive disease in humans. A woman with
hemophilia mates with a man who exhibits normal blood clotting. What is the probability that
their child will have hemophilia
 ● All of their male offspring will have hemophilia, and none of their female offspring
will have hemophilia, so the overall probability of hemophilia in their offspring is
½
→ symbols for X-linked genes
● Example:
○ Genotype of white-eyes female Drosophila
■ Ww o ww or XwXw
○ Genotype of white-eyed hemizygous male
■ W or w/ or XwY
→ in females
● There are two copies of X chromosome, and two copies of each autosome
○ Genes on X chromosomes and autosomes are ‘in balance’
→ in males
● Only a single X chromosome, and two copies of each autosome
○ Produce less of a protein encoded by X-linked genes than a protein encoded by
autosomal genes
→ dosage compensation
● Equalization in males and females of the amount of protein produced by X-linked genes
● In placental mammals, dosage compensations is accomplished by the random
inactivation of one X chromosome in the cells of females
→ barr bodies
● Inactivated X chromosome that appears as a condensed darkly staining structure in
most cells of female placental mammals
QUESTION
How many Barr bodies will a male with XXXYY chromosomes have in each of his cells? What
are those Barr bodies?
● Two Barr bodies
● Each Barr body is an inactive X chromosome

→ Y-linked characteristics
● Only present in males
● All male offspring will exhibit the trait
● Y chromosome lost DNA over time
● Important for sex determination in SRY