CHAPTER NO.

9
INHERITANCE
IMPORTANT TERMS IN THE CHAPTERS;
• The similar characteristics that pass from parents to offspring are collectively called
heredity.
• The resemblance however is not complete, the off springs differ from each other and
their parents in many aspects. These differences are known as VARIATIONS.
• The science which deals with the transfer mechanism of the heredity and variations is
called genetics. Batson introduced this term in 1906.
• The term genetics is also referred as study of genes.
• Inheritance is the transfer of similarities from parents to off springs.
• Variations are the observable differences among the off springs of the same species.
• Gene is the smallest part of DNA upon which protein synthesis occurs. Alsoit is the
smallest part of DNA which is responsible for the development and transfer of character
from parents to offsprings.
• Allele is the alternate form of gene or we can also say that existence of genes in
different forms is known as allele. Each allele pair occupies same locus on its respective
homologue.
• Homozygous alleles are the pair of alleles which control the same characteristic.
• Heterozygous are the type of alleles which control contrasting characteristic.
• PHENOTYPE are the physical characters of an organism that can be observed by the
interaction of genes.
• Genotype is the genetic makeup of a character.
• Dominant alleles are those which can express themselves in homozygous as well as in
heterozygous state.
• Recessive are those alleles which express themselves only in heterozygous condition
and remain suprressive in homozygous condition.
• Hybrid are the off springs of parents containing contrasting characteristics.
• Punnet square was devised by RC punnet for summarizing the fusion of gametes in
genetic processes .
• All the genes found in a breeding population at a given time are collectively called as
GENE POOL.
• Also it is the genetic information encoded in the total genes in a breeding population
existing at a given time.
MENDALIAN INHERITANCE AND HIS LAWS OF INHERITANCE;

• The science of of genetics originated in year 1900 with the rediscovery of an article
originally published in 1866 by an augustinian monk named GREGOR JOHANN MENDEL.
• Mendel was born on July 22 1822 in Czech republic.
• He entered an Austrian monastery at Brunn, Czech republic and became active in
investigating variations, heredity and evolution in plants.
• Between 1856 and 1863 he cultivated nearly 2800 pea plants.
• He carefully analyzed the 7 pairs of seed and plant characteristics.
• He delivered his first lecture on genetics in 1865.
• He published his paper ‘Experiments on plant hybridization’ in year 1866.
• His workmade no impression for the next 34 years.
• Later on his work was recognized by 3 investigators, a dutch botanist HUGO DE VERIES,
German DE CORRENS and Austrian TSHMARCK.
• He died in Brunn on January 6 1884.
• Mendel was the first who successfully explained the mechanism of inheritance during
his research work on pea plant.

REASONS FOR CHOOSING PEA PLANT;

• Pea plant is easy to grow in pots or open grounds.

• It had short life cycles.
• The plant has self pollinating flowers.
• Cross pollination was also possible.
• The plants possessed distinct contrasting heritable characters.
• Mendel chose seven pairs of characters for his study which are seed shape, seed colour,
flower colour, pod shape, pod colour, flower position, stem height.

MONOHYBRID CROSS (single trait inheritance);

• Monohybrid cross is the type of cross in which a single trait contrasted plants are
crossed.
• For this he crossed a pure breeding round shaped plant with a pure breeding wrinkled
seed plant.
• He observed that the F1 generation was comprised of individuals comprised of entirely
one parental phenotype i.e. round seed shape.
• However when this generation was interbred in the F2 generation a ratio of 3:1 was
shown for round and wrinkled seeds.
• Mendel got these results for all the seven pair of contrasting trait in monohybrid cross.
RESULTS;

• Based upon these observations mendel concluded that each pair of contrasting
phenotype was determined by ELEMENTENS i.e. genes.
• These factors transmitted hereditary information from parents to off springs through
gametes.
• Each plant had a pair of these genes known as alleles.
• Alleles are two in no. in off springs out of which each comes from male and female.
• He designated the term dominant also to the factor expressed in F1 generation and that
was failed to express was regarded as recessive.
• A method also ccan be used to represent alleles on the basis of wildness i.e. when out of
2 phenotypes when one is more common then its alternative form is known as wild
phenotype. The rare one is known as mutant phenotype.
• The symbol + is used to indicate the the normal allele for the wild type and the base
letter is brought from the name of mutant type.
• These factors were represented by alphabetical symbols.
• The dominant allele was regarded by capital letter and recessive with smaller.
• Mendel interfered that pair of genes separated from each other during gamete
formation such that each gamete receives only a single allele.
• He observed 3:1 phenotypic ratio in F2 generation.
• He observed 1:2:1 phenotypic ration in F3 generation.
• The law of dominance was also stated on this basis i.e. “one factor dominated the other
factor which is known as the dominant one”
• He also stated law of segregation on these basis which states that, “the two coexisting
alleles for each trait in an individual segregate from each other at meiosis, so that each
gamete receives only one of the 2 alleles”.
• Alleles unite again at random fertilization of gametes when zygote is formed.

DIHYBRID CROSS (INHERITANCE OF 2 TRAITS);

• The inheritance of 2 traits simultaneously can be studied in a dihybrid cross between 2

individuals which are different on 2 traits.
• The 2 of the seven characteristics were seed shape and seed colour.
• Seed may shape either round or wrinkled and there colour can be either yellow or
green.
PROCEDURE;

• When a homozygous round yellow plant RRYY was crossed with homozygous green
wrinkled rryy plant in F1 generation all the plants were produced with both dominant
phenotypes that is ROUND and YELLOW.
• He then self fertilized them and prouduced F2.
• He was expecting a 3:1 phenotypic ratio but as a result he got 4 different phenotypic
conditions i.e. ROUND YELLOW (RRYY), ROUND GREEN(RrYY), WRINKLED YELLOW(rrYY),
WRINKLED GREEN(rryy) with a ratio of 9:3:3:1.

RESULTS;

• Mendel concluded that the F1 progeny was dihybrid i.e. heterozygous (RrYy) for both
traits.
• An F1 plant produced 4 types of gametes in F2 that is RY, rY, Ry, ry in equal quantities.
• If the sperm of the 4 classes of gametes are crossed with eggs of 4 types of there will be
16 equal probable ways in which the alleles can combine in F2 progeny.
• The phenotypic ratio was 9:3:3:1.
• Mendel tested all the seven pea characters in various di hybrid conditions and got the
same results.
• He also stated law of INDEPENDENT ASSSORTEMENT which states that “each pair of
alleles assort independently of other pairs of alleles during gamete formation”.
• In other words the alleles of each pair of contrasting traits have equal probability to
assort with the alleles of the other pair.

LIMITATIONS OF THE LAW;

• Although mendels work forms the basis of heredity but it doesn’t cover all the
situations.
• The fact is that mendalian work applies only on diploid organisms and not all organisms
are diploid.
• Moreover genes on the same chromosome could not be expected to assort
independently because of gene linkage.
• An offspring that inherited one trait cannot inherit another unless crossing over has
occurred.
• Further if genes are located on X chromosome pattern of distribution in the succeeding
generation is different.
• Males because they have only one chromosome- their other is Y doesn’t carry many of
the genes are more likely to show X linked recessive traits.
SCOPE OF THE LAW;

• Another feature of the law of the law of independent assortement is recombination.

• It occurs during meiosis and is a proess that breaks and recombines pieces of DNA
toproduce new combination of genes.
• It scrambles pieces of maternal and paternal genes which ensures that genes assort
independently from one another.

PRODUCT RULE;

• Rule of multiplication is that the independent events will ocurr simultaneously is the
product of their individual probabilities.

SUM RULE;

• Rule of addition is that the sum of the probability of an event that can occur in more
than one independent ways is the sum of the separate probabilities of the different
ways.

STATISTICAL NATURE OF INHERITANCE;

• if a seed is planted from thee F2 generation of a monohybrid cross we cannot predict

the uncertainity that the plant will grow to produce white flowers.
• Rather we can say that there is 25% chance of white flower production.
• The larger the size the more likely it would be that the percentage of the results will
approximate the prediction.

PROBABILITY;

• Probability is the chance that an event will occur.

• Probability equals the case(a) divided by the total number of cases(n) or P=n/a
assuming all cases are equally likely events.

EXCEPTIONS FROM MENDELIAN INHERITANCE;

• Mendel had observed only one form of dominance relations i.e. complete dominance in
his experiments but later on geneticists became able to explain certain exceptions to
the mendalian inheritance that could not be explained on the basis of complete
dominance.
• These exceptions include Co-ddominance, incomplete dominance, and multiple alleles
and over dominance.
INCOMPLETE DOMINANCE;

• When neitheroff the two alleles express independentlyin heterozygous condition rather
than a blend of their expressions is appeared is known as incomplete dominance.
• In 1899 this phenomenon was first observed by Carl correns while workingon a
flowering plant named 4’o clock plant i.e. Mirabilis jalapa.
• When one red and white flower all truly bred were crossed with each other all the
resultant flowers obtained were pink in colour.
• This novel phenotype had a shade intermediate netween those of parents due to an
intermediate amount of pigments in the petal.
• When corren self fertilized Pink plants of the F1 progeny, the resultant 3 phenotypes
were obtained i.e. red, pink, and white with a ratio of 1:2:1.
• As there is no complete dominant allele, the usual capital and small letters distinction
for dominant and recessive trait is not necessary.

CO-DOMINANCE;

• Another variation of dominance relationships between allele is called co dominance, in

which both the contrasting alleles at the same locus express independently without
influencing each other.
• Hence the phenotype of both contrasting alleles becomes apparent.
• An example of this can be Mn blood group system in man.
• The MN blood group is determined by 2 alleles LM and LN for 2 specific molecules
located on the surface of RBCs, the M and N molecule.
• A single gene locus at which 2 allelic variations are possible determines the phenotypes
of the blood group.
• Individuals of LMLM allele will have M molecule.
• Individuals of LNLN allele will have N molecules.
• But both alleles are if present i.e. LMLN then both M and N molecules will be formed.

OVER DOMINANCE;

• When the phenotypic exression of the heterozygotes (W+/W) become more intense
than the homozygous (W+/W+) state of dominant allele, then this condition is known as
over dominance.
• In fruit fly or drosophila the heterozygote (W+/W) has more quantitiy of fluorescent
pigments in their eyes than wild (W+/W+) or white eyes (W/W) homozygote.
MULTIPLE ALLELES:

• When allele exisits in more than 2 different forms, then these are called multiple
alleles.
• If a trait exists in 3 different phenotypes there must be some sort of interactions i.e. co
dominance, incomplete dominance, found between the 2 alleles.
• If there are 4 or more possible phenotypes then more than 2 alleles for that traits must
exist in the population.
• All types of such allleles aare known a multiplealleles.
• Multiple alleles areproduced as a result of gene mutation.
• Some genes have as many as 300 phenotypes but individuals have only 2 of them as we
inherit half of our genes from father and the other from mother. Hence we end up in 2
alleles for every trait in our phenotypes.
• ABO blood group system is an example of multiple alleles in humans.

BLOOD GROUP SYSTEMS;

• The international society of blood has recognized up to 30 major blood groups.

• These systems are characterized by the presence or absence of specifi molecules called
antigens that are situated on the surface of RBCs.
• Most antigens are glycoprotein molecules.
• Two main blood group systems are ABO blood group system and RH blood group
system.
• The rest of the blood groups are known as rare blood typeswhich include MNS, P,
LUTHERAN, KELL, LEWIS, DUFFY, KID, diego etc.

ABO BLOOD GROUP SYSTEM;

• It was discovered by Landsteiner in 1901 at the university of Vienna in the processss of

trying to learn why sometimes blood transfusions cause death and sometimes save the
patient.
• In 1930 he received Nobel prize for this discovery.

ANTIGENS OF ABO SYSTEM;

• There are several marks on the RBC membrane which are generally known as antigens.
• ABO blood group system is based upon 2 such antigens i.e. A antigen and B antigen
which are GLYCOPROTEIN in nature.
• If A antigen is present on the surface the blood group is called as A.
• If B antigen is present on the surface then blood group is known as B.
 • If both the antigens are present the blood group type becomes AB and if none of these
are present the blood group type becomes O.

GENETIC BASIS OF ABO SYSTEM;

• Bernstein explained the genetic basis of these blood groups in 1925.

• ABO blood group system is controlled by single polymorphic gene I which stands for
isohaemagglutanin present on autosomal chromosome no. 9.
• The 4 combinations of phenotypes result form the various combination of these blood
groups of three different alleles summarized as Ia for the ability to make A substance, Ib
the ability to make B substance and I for neither A nor B.
• The dominance relations between these blood groups are very interesting.
• Alleles Ia and Ib are completely dominant over the allele I, while allele IA and IB are co
dominant to each other because appear in heterozygous state to produce AB
phenotypes.
• The genotypes IAIA or Ii will produce phenotype A.
• The genotype IBIB or IBIi will produce phenotype B.
• While the homozygous ii will produce O phenotype.
• The blood groups start their expression at the embryonic stage and keep expressing till
death.
• The blood group phenotype of an individual never changes in his life.

COAGULATIONS AND TRANSFUSIONS;

• The type A blood group person if is transfused with the same type A blood group then
no antibodies will produced.
• But if B blood group is transfused with A blood group then coagulation will occur as A
type phenotype contains Anti B bodies and B type phenotype contains ANTI A bodies.
• Individuals with blood type O do not produce any kind of antibodies, but they can
recieve only O blood group.
• The type AB blood group individuals donot produce any antibodies hence, they can
universal recipients for blood group.
• But there blood will be agglutinated if given to any other blood groups.

NOTE:

• A and B antigens can aslo be present in saliva and other [arts of the body called
secretors.
• Secretors have a dominant gene Se on chromosome no. 19.
RH BLOOD GROUP SYSTEM;

• The rhesus blood group system include Rh factor is ne of the most common amongst the
30 blood groups of humans.
• It is clinically the most important blood group after ABO blood group.
• The name of this system Rh is derived from RHESUS monkey, because iits antigen was
first discovered in it by Landsteiner in 1930s.
• The Rh system currently consists of 50 different blood antigens.
• Among which 5 are the most common i.e. D,C,E,c, and e.
• The most commonly used termforthe positive and negative factor is of the D antigen
only.
• The person having this antigen are called as Rh positive while in which it is absent are
called as Rh negative.
• On the lother hand the D factor incompatibility between the donor and the recipient
can cause problem not only during blood transfusion but also cause a hemolytic disease
I the fetuses known as ERYTHROBLASTOSIS FOETALIS.
• The alternative of blood transfusion are volume expanders which are iused to prevent
or treat thee shock associated with loss of fluid most common of which are SALINE +
RINGER’S solution.
• Haemotopoetic growth factor encourage the bone marrow to produce RBCs.
• Erythropoietin is naturally occurring hormone produced by kidneys. It stimulates the
body to produce more RBCs. It is used as an alternative.
• Aprotonin is a drug that is given prior to heart surgery to reduce risk of bleeding.
• Rh blood group system has an mechanism of antibody production also i.e. anti RH
antibody, which is produced in Rh negative blood.
• A Rh negative blood group person doesn’t produce any anti- Rh antibodies unless he is
exposed to the particular antigen.
• Rh positive donor is totally incompatible for Rh negative recipient.
• If a wrong transfusion occurs he will begin to produce anti Rh antibodies against Rh
antigens.
• Once the mechanism of production of antibody is stimulated it continues till the rest of
its life.
ERYTHROBLASTOSIS FAETALIS;

• It develops in a foetus, when anti Rh antibodies produced by the mother pass through
the placenta.
• When a mother’s antibodies seep through the placenta into the bloodcirculation of the
foetus the start haemolysis.
• As the destruction continues, the fetus becomes anaemic.
• The anaemic foetus start to release many immature erythroblasts into the blood stream
and this condition is known as erythroblastosis foetalis.
• This anaemia may lead to abortion or still death.
• Even if the pregnancy continues the liver and spleen of the foetus swell as they rapidly
produce RBCs.
• The breakdown product of RBCs is BILIRUBIN which accumulates in the foetus.
• Bilirubin damamges brain cells and turns skin and the white of eye to yellow.
• This condition is regarded ass jaundice.
• Such babies should be immediately replaced by Rh negative blood group free of anti Rh
antibodies.

CAUSES AND RISK FACTORS;

• It most commonly happens when a woman with Rh negative blood group gets married
to a man with Rh positive blood and conceives a baby with Rh positive blood
• If a mans phenotype is DD, all of ther offsprings will have Dd genotype and will be Rh
positive.
• If the man’s genotype is Dd then there is a bit lesser chance and half of their off springs
will be Rh positive.
• There is always a chance of this incompatibility whenever a mother with Rh positive
blood conceives a baby with Rh negative blood.
• Rh negative mother is given an injection of Rh antiserum containing anti Rh antibodies
during early pregnancy stages and immediately after birth within72 hourss of delivery.
• This causes any of the baby’s RBCs that may have crossed into the mother’s blood
stream to immediately die before the mother’s immune system sensitizes it.
• The injected serum disappears before next pregnancy.
• This has to be done with every pregnancy whether it ends in a delivery or abortion.
 EPISTASIS;
• an example of non allelic gene interaction is known as epistasis.
• It can be defined as a phenomenon in which the effect caused by a gene at one locus
interferes with or hides the effect caused by the genes at one locus interferes with or
hides the effect caused by another gene at another locus.
• In such interactions the gene which is suppressed or masks the effect of a gene at
another locus is known as EPISTATIC and the gene which is suppressed is known as
hypostatic gene.
• It must not be confused with dominance.

EPISTASIS IN AB BLOOD GROUP SYSTEM (BOMBAY PHENOTYPE);

• This phenotype was discovered in Bombay in 1952 by Dr. Y M Bhende.

• It is present in about 0.0004% of the population of humans.
• he expression of ABO blood genotypes is located on chromosome no. 9 also depends on
the another gene H locus on chromosome no. 19 that encodes a special H substance.
• The H substance is a precursor to the A and B antigens.
• For instance the allele IB must be present to prouce the B enzyme that modifies the H
substance to beome the B antigen.
• It is the same for allele Ia.
• However if only recessive hh are inherited the H substance will not be produced.
• Subsequently the A and B antigens also will not be produced.
• The result is an 0 phenotype by default since a lack of A and B antigens is the O type.
• This seemingly impossible phenotype result hass been reffered to as Bombay phenotype
because it was described in that city of INDIA.

POLYGENIC INHERITANCE;

• Some traits have aa large number of alternative phenotypes that have small and less
striking difference so they have continuos variations such as height, weight,
intelligence, and skin colour in humans.
• Such traits cannot be encoded by a single gene with 2 alleles.
• Such traits are encoded by alleles of 2 or more different gene pairs found at different
loci, all influencing the same trait in an additive way i.e. the intensity of phenotype
depends upon the number of particular effect causing alleles.
• These quantitative genes are thus called as polygenes, which have a small positive or
negative effect on the character.
 • Polygenes supplements each other and sumof positive and negative effects of all
individuals polygenes produce quantitative phenotypes of a continuous varying traits.

GENE LINKAGE and CROSSING OVER;

• Genes located oon the same chromosome that tend to be inherited together in genetic
crosses are said to be linked genes.
• The phenomenon of staying together of more thaan one gene o the same chromosome
is called gene linkage.
• If genes are linked on autosomes, their linkage is called autosomal linkage.
• Similarly if they are linked on sex chromosome sthen their linkage is known as SEX
LINKAGE.
• The number of linkages in an organism is equal to the no. of homologous pair of
chromosome in that organism.
• The linked genes tend to be inherited together usually they donot show recombination
and donot assort independently in the offspring.
• The mendalian ratio of independent asssortement is deviated.

DETECTION OF GENE LINKAGES;

• Gene linkages can easily be detected by performing a test cross.

• In such type test cross a heterozygous individual for 2 traits is back crossed with its
recessive parent.
• If all4 phenotypic combinations are produced in equal ratio i.e. 1:1:1:1 then there
would be no gene linkage between the gene.
• If this ratio is deviated i.e. more parental type and less recombinant type then
thisindicates incomplete linkage.
• But if only parental type occurs then complete linkage is believed.
• In a typical dihybrid cross, the complete or tight linkage inhibits outcome of
recombinant types and disturbs 9:3:3:1 ratio of independent assortement, as a result
only parental combinations are produced in 3:1.

MORGAN’S EXPERIMENT;

• T.H Morgan studied about 85 pairs of contrasting traits in fruit fly Drosophila
melanogaster.
• Two of them were wing length and width of abdomen.
• Allele for the long wings Vg is dominant over short winged vg.
• Similarly allele for broad abdomen A is dominant over allele for narrow abdomen a.
 • Morgan crossed a fly with long wings and a broad abdomen with a short winged narrow
abdomen fly.
• In f1 generation all had long wings and wide abdomen.
• In F2 generation about ¾ of the offsprings had long wings and a broad abdomen while ¼
had short wings and narrow abdomen.

ENCOUNTRING OF INDEPENDENT ASSORTEMENT ;

• Morgan’s results were very different from the results that he had expected on the basis
of law of independent assortement.
• From this data morgan concluded that the genes for abdomen width and wings length
were present on the same chromosome so they did not assort completely and wwere
inherited together.
• Therefore, no recombinant types were produced and the standard ratio was modified to
3:1.

CROSSING OVER;

• Subsequent experiments concluded that the process which is responsible for the
recombination of genes which are linked is crossing over..
• In crossing over an exchange of the maternal and paternal chromatid parts occur while
the homologous chromosomes are paired during prophase of meiosis 1.
• The recombinant chromatids resulting from the crossing over may briong alleles
together in new combinations.
• So when they are distributed a wide variety of gametes are produced.
• therefore, crossing over leads for genetic variability in sexually reproducing organisms.
• Percentage of crossing over or recombinant frequency has helped in locating genes on
chromosomes, determining their sequence and preparation of chromosomal gene map.

SEX LINKAGE;

• Traits controlled by alleles on the sex chromosome are said to be sex linked and the
phenomenon is called sex linkage.
• An allele that is only on the X chromosome is linked and that allele which is only onY
chromosome is Y linked.
• Some traits which are controlled by such genes which have alleles found on the both X
and Y, such traits are called as X-Y linked traits or pseudo autosomal traits because
unlike other other sex linked traits they have just like autosomal mode of inheritance.
SEX LINKAGE in DROSPHILA;
• The inheritance of eye colour in drosophila where males are XY and females are XX.
• Organisms having normal characteristics are called wild types.
• Organisms having not the normal characteristics are regarded as mutants.
• The wild type drosophila has bright red eyes.
• T.H Morgan raised culture of drosphila to study different traits.
• Morgan crossed the white eyed males to the red eyed females, about 1237 flies were
produced in F1 generation and all were red eyed.
• In the F2 generation there were 3470 red eyed flies aand 782 white eyed flies.
• He observed 2 deviations from the mendels experiments.
• there was a slight deviation in the 3:1 ratio of monohybrid cross and secondly all the
white eyed males in the F2 generation were male.
• He then crossed the red eyed F2 female to the parent white eyed male.
• He obtained 129 red eyed females, 132 red eyed males, and 88 white eyed females and
86 white eyed males.
• Again this was a poor fit to the expected 1:1:1:1 of the gene linkage due to deficiency in
recessiveness.
• The important thing was that there were 88 white eyed females.
• Then morgan mated a white eyed female with a red eyed male, all female had red eyes
an all males had white eyes.

MORGAN’S CONCLUSION;

• Morgan concluded that the white eyed trait gene resided on the X chromosome.
• Morgana had only to assume that Y chromosome didn’t have this gene it was later
shown carry almost no functional genes.
• White eye was then regarded as a recessive trait, the results that he ibtained could be
seen to be a natural consequence of mendelian segregation.

SEX LINKAGE IN HUMANS;

• Humans have many X linked traits some of which like haemophilia and colour blindness
a rerecessive while others like hypophasphatemic or vitamin D resistant rickets are
dominant X characters.
• Their patterns of inheritance are very different from each other.
• Mode of inheritance can be traced through pedigrees as experimental mating is not
possible in humans.
X-LINKED RECESSIVE INHERITANCE;

• Females ossesing one X linked recessive mutation are considered as carriers and will
generally not manifest clinical symptoms of the disorder.
• All males possessing an X linked recessive mutation will be affected as they have a single
X chromosome antherefore have only one copy of X linked genes.
• All off springs of an affected father will be carriers of inheriting the mutation.
• All female children of the affected father will be carrires as they posses one
chromosome X from their father salso.
• No male children of an affected father father will be affected as they inherit only Y
chromosome from their fathers.
• Some examples include Haemophilia A and B and colour blindness.

X LINKED DOMINANT INHERITANCE;

• A male or female child of an affected mother has a 50% chance of inheriting the
mutation.
• All female children of an affected father will be affected.
• No male children of an affected father will be affected.
• EXAMPLES are;
a) ALPORTS SYNDROME; a disease in which the tiny blood vessels are damaged in the
kidneys leading to disease and kidney failure. It can also cause hearing problems and
eye problems.
b) Coffin-LOWERY Syndrome; a rare disorder characterized by intellectual disability,
abnormalities of the head and facial bones, large and soft hands with thin fingers, short
stature and various skeletal abnormalities.
c) IDIOPATHIC HYPOPARATHYROIDISM; a rare endocrinal disorder which is frequently
represented by neuropsychiatric disorders.
d) Vitamin D resistant rickets; a disorder in which the bones become soft and bend easily
due to low levels of phosphate in the blood.

Y LINKED INHERITANCE;

• It refers to a phenotypic trait which is determined by an allele on Y chromosome.

• It is also known as holandric traits.
• The Y chromosome is mall and doesn’t contain many genes therefore a few traits are Y
linked and Y linked diseases are rare.
• Chromosome Y deletions are various causes of male infertility other example was
though to be hairy ears, hypertrichosis, porcupine man, and webbing of toes.
 • Recently 2 more genes have also been discovered i.e. TDM tesstes determining gene
and HISTOCOMPATIBILTY gene.
• These traits pass from father to son only.

GENETICS OF HAEMOPHILIA;

• Haemophilia is a rare X linked recessive trait.

• Haemophiliac’s blood fails to clot properly after an injury, because it has either a
reduction or malfunction or complete absence of blood clotting factors.
• Haemophiliacs may bleed to ddeaath even from minor cuts.
• It is of 3 types i.e. A,B and C.
• Haemophilia A and B are X llinked recessive disorders but haemophilia C is an
autosomal disorder.
• Being X linked the HAEMOPHILIA A and B affect more males than female sbut
haemophilia affects both sexes euqually being an autosomal trait.
• Chance for a man to acquire haemophilia A are doublethan that of female.
• Haemophilia A and B zigzag from maternal grand father through a carrier daughter to a
grandson.
• It never passes from a father to a son directly.
• Gene for normal is H and gene for heamophilia A is h.

TREATMENT;

• Cases of mild haemophilia A can be treated by using a type of medicine known as

desmopressin.
• Despopressin is a synthetic hormone which works by stimulating theproduction of
clotting agent 8 and is usually given by injection.
• Also it is treated by a synthetic clotting agent called octagalfa which is a atype of
genetically purified protein.
• Haemophilia B is caused due to lack of clotting agent 9