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Dominance and Genetic Disorders Overview

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Dominance and Genetic Disorders Overview

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raghavmahajan343
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Test cross Incomplete dominance Multiple Allelism Methods of sex determination

 Crossing of F1 offspring  Sometimes F1 offspring do not  There are usually two alleles in a gene  XX-XY method
with its recessive show complete dominance  Occurrence of more than two alleles (Man&Drosophila)
parent but the phenotype of F1 in a gene is known as multiple allelism  XX-XO method
 Monohybrid test cross offspring is in between the Example (Grasshopper& Cockroach)
ratio- 1:1 phenotypes of two parents  ‘I‘ gene and has three alleles- IA,IB and  Male heterozygous and
 Di hybrid test cross i female homozygous
ratio- 1:1:1:1 Red * White  Male gametes are
 Used to find out Allele 1 Allele 2 Blood group responsible sex of child
unknown phenotype IA IA A  ZZ-ZW method
Co-dominance IA i A (Birds)
Pink IB IB B  Female is heterozygous and
 Sometimes both the alleles of a IB i B
responsible for sex of child
Pink * Pink IA IB AB
gene are expressed
i i O
simultaneously in a phenotype Red Pink Pink White
 AB blood group- IA and IB are (1:2:1) Haemophilia (gene disorder)
expressed simultaneously. Turner syndrome(chromosomal disorder)
 X-linked disorder
Down syndrome(chromosomal disorder) Klinefelters syndrome(chromosomal disorder)  Due to non-functioning protein in the
cascade of protein involved in blood
 Autosomal disorder  Sex linked disorder
clotting
 Mongolian idiocy  Due to monosomy of sex
 Inability to clot blood
 Due to trisomy of chromosome no  Sex linked disorder chromosome(2n-1)
 Females rarely affected
21(2n+1)  Due to trisomy of sex chromosome(2n+1)  44A+XO
 Female get affected if father is
 Trisomy is due to non-disjunction  Trisomy is due to non-disjunction  No of chromosome 45
haemophilic and mother is carrier
 44A+XX/XY  44A+XXY Symptoms
 Criss-cross inheritance (Zig-Zag)
 No of chromosome 47  No of chromosome 47  Phenotypically female but shows
 Normal gene-HH
Symptoms Symptoms characteristics of male
 Carrier gene-Hh
 Congenital heart disease  Phenotypically male but shows feminine  Absence of secondary sexual
 Affected gene-hh
 Mental retardation characteristics characters
 Rounded face and protruded  Gynaecomastia  Rudimentary ovary
tongue.  Absence of secondary sexual characters  Absence of menstrual cycle
Sickle cell anemia(gene disorder)
Phenyl ketone urea(gene disorder)
Pedigree analysis-How to analyse Chromosomal theory of inheritance
 Autosomal disorder
Pedigree analysis  Autosomal disorder
 Dominant trait- appear in all  GAG to GUG  Put forwarded by Sutton and
 Error in the metabolism of phenyl  Glutamic acid is replaced by Valine at
generation Boveri
 Analysis of family tree to ketone urea
 Recessive trait-not appear in all the sixth position of beta globin chain  According to this genes are
study inheritance of a trait  Due to the absence of phenyl alanine
generation located in chromosomes,
 Oval-female hydroxylase Val-His-Leu-Thr-Pro-Glu-Glu later they segregate and
 Autosomal-appear in both males  Square-male  Accumulation of phenyl alanine and
and female assort independent of each
 Diamond- sex unspecified conversion to phenyl pruvic acid Val-His-Leu-Thr-Pro-Val –Glu other
 X-linked trait- from mother to son  Darkened figures-affected  Accumulation in brain-mental
 X-linked trait- from father to  Hb content reduces and RBCs
 Single line-mating retardation Linked gene
daughter becomesickle shaped
 Double line-consaganeous  Poorly absorbed by kidneys and  Genes that found close
 Y-linked trait-from father to son  Normal gene-HbAHbA
marriage excreted through urine together
 Zig-zag inheritance-grandfather to  Carrier gene-HbAHbS
 Normal gene-PP  Affected gene-HbSHbS  Inherited together
grandson through a career female  Carrier gene-Pp  Chances of crossing over is
 Affected gene-pp limited

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