heritability of multifactorial disorders, x-linked heredity seminar no 427 heredity
TRANSCRIPT
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Heritability of multifactorial disorders,
X-linked heredity seminar No 427 Heredity
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X-linked heredityKey words:
sex-linked traits, completely and incompletely sex-linked traits, gonosomes (heterochromosomes), hemizygote, gonosomal dominant heredity (XD), gonosomal recessive heredity (XR), holandric heredity, testes determining factor (SRY), sex influenced and sex limited traits
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X-linked heredity
1. A woman is a carrier of hemophilia (XR disorder). What is her
chance of having 6 sons - three healthy and three affected with
hemophilia?
2. A woman is a carrier of hemophilia (XR disorder). What is her
chance of having 6 children - three healthy and three affected
with hemophilia?
3. Explain situation in following three pedigrees. A man (III/1) has DMD (Duchene muscular dystrophy, XR
disorder). What is the difference among this pedigrees? What is the risk that women are carriers of
DMD?
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a) b) c)
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4. A couple is healthy. Wife´s father suffered from
hemophilia A. Husband´s parents are healthy, but his
maternal grandfather suffered from hemophilia A.
What is their risk of having an affected son, an
affected child?
5. A woman has maternal grandfather affected by
hemophilia A. What is her risk of having an affected
child, an affected son?
6. What are the situations, in which woman suffer from
hemophilia?
7. What woman is obligatory carrier of hemophilia?
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9. Defective development of dental enamel is gonozomal
dominant (GD) disorder.
a) A healthy woman married an affected man. What is
their chance of having an affected daughter, an affected
son?
b) An affected woman married healthy man. What is
their chance of having all four children healthy ?
10. A man suffers from hemophilia and color blindness.
Will all his daughters carriers of both alleles? What is the
probability that his daughter´s sons will be affected by
this disorders?
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10. A man suffers from hemophilia and color blindness.
Will all his daughters carriers of both alleles? What is
the probability that his daughter´s sons will be affected
by this disorders?
11. A man with hemophilia marries normal female from healthy family. What is the probability they will have affected offspring? What is the probability they will have an offspring - carriers of hemophilia?
13. Premature baldness in man is dominant trait. In heterozygous genotype this trait is
expressed only in presence of male hormones, in female heterozygotes this trait is not
manifested. What are genotypes and phenotypes of male and female offsprings of these
couples?
a) mother bb x father BB
b) mother Bb x father Bb
c) mother BB x father bb
d) mother bb x father bb.
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Polygenic heredity
Key words
polygenic, multifactorial heredity, quantitative traits,
theory of threshold, hereditary predisposition,
empiric risks, preconceptional care, Edwards
formula, twins study, concordant and discordant
traits, heritability
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Calculation of heritability from twin studies
Heritability H= degree of genetic determination of trait, disorder
Twin studies:
MONOZYGOTIC twins - genetically identic
DIZYGOTIC twins - genetically as siblings
Concordant traits - both members of twin pair exhibit a certain trait
Discordant traits - only one member of twin pair exhibits a trait
CMZ - CDZ H = 100 – CDZ
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2) What is value of heritability for a) schizophrenia, if concordance of monozygotic twins is 75%, concordance of dizygotic twins 15%. b) hypertension, if concordance of monozygotic twins is 35%, and dizygotic 2,7%
3) Calculate the risk of cleft palate for the 1st degree relatives, if frequency of this disorder in population is 0,0016.
4) Two healthy parents have a daughter with spinal cleft Frequency of disorder in population is 0,0009. What is the risk of abnormality for the next pregnancy? What will be the risk for a child of affected daughter?
5) One member of monozygotic twin pair exhibits AD disorder, second member not. Explain possible causes.
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Thompson and Thompson: Clinical genetics,
chapter 8 : Complex inheritance, pg. 151-159, 7th
edition