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Modes of Inheritance

This document discusses different modes of inheritance for genetic disorders, including dominant, recessive, sex-linked, and multifactorial inheritance. It provides details on establishing patterns of inheritance through pedigree analysis and the key characteristics of autosomal dominant and autosomal recessive inheritance patterns. Autosomal dominant traits express in heterozygotes and have a 50% chance of being passed to offspring. Autosomal recessive traits only express in homozygotes, with carrier parents having a 25% chance in each pregnancy of an affected child. Pedigree analysis is used to determine inheritance patterns and detect new mutations.

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237 views18 pages

Modes of Inheritance

This document discusses different modes of inheritance for genetic disorders, including dominant, recessive, sex-linked, and multifactorial inheritance. It provides details on establishing patterns of inheritance through pedigree analysis and the key characteristics of autosomal dominant and autosomal recessive inheritance patterns. Autosomal dominant traits express in heterozygotes and have a 50% chance of being passed to offspring. Autosomal recessive traits only express in homozygotes, with carrier parents having a 25% chance in each pregnancy of an affected child. Pedigree analysis is used to determine inheritance patterns and detect new mutations.

Uploaded by

drmanojkul
Copyright
© Attribution Non-Commercial (BY-NC)
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PPT, PDF, TXT or read online on Scribd
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MODES OF INHERITANCE

PATTERN OF SINGLE GENE INHERITANCE


Main categories of genetic disorders

Chromosomal
Single gene Multifactorial Inherited variation in the genome is the cornerstone of human genetics.

Terms used

Alleles
Genotype Phenotype Homozygous Heterozygous Mutation Single gene disorder

1)specific allele at a locus


2)or both members of homologous pair

Modes of Inheritance
Describes the different ways the genes are handed down Genes exists in pairs on homologous chromosomes except X & Y X & Y have few loci carrying homologous genes

An inherited trait depends on


1)Single gene Mendelian inheritance

2)Cumulative effect of no. of genes Polygenic


Mendelian inheritance - 1)Autosomal 2)Sex linked

Dominant inheritance (Phenotype) expressed in heterozygotes &homozygotes. Recessive inheritance expressed in homozygotes Codominant inheritance - AB Blood group Intermediate inheritance Sickle cell trait-Partial expression of both alleles X-linked trait 1) Males - hemizygous 2)Females heterozygotes show

variable expression
Y- linked trait - holandric inheritance

PATTERN OF TRANSMISSION OF SINGLE GENE DISORDER


To establish the pattern
1)Obtain Family history - Pedigree chart is prepared. A shorthand method of recording the pertinent information about the family. There are standard symbols used for drawing a pedigree. 2)It depends on a)Chromosomal location of gene

- autosomal or sex-linked
b)Phenotype dominant or recessive

Factors affecting pedigree pattern


Small family size
Chance segregation of genes from parents to children.

New mutations.
Variable expression of genes. Effect of other genes & environment on gene expression. Failure of some genotypes to survive.

Lack of accurate information about the presence of disease in relatives

Autosomal Dominant Inheritance An autosomal dominant trait expresses in a heterozygote state. Homozygotes of it are severely affected because of double dose of an abnormal gene.

Pedgree charting of autosomal dominant inheritance

1. An affected person has an affected parent, exception being mutant gene. 2. An affected person has normal and abnormal offsprings in equal proportions, i.e. there is 50% chance of dominant trait being transmitted to offsprings from affected parents. 3. Both males and females are equally affected. 4.The trait appears in every generation without skipping. An exception to this could be the trait impairing reproductive capacity of an affected person. 5.Normal children of affected person do not transmit the disease.

Features associated with autosomal dominant inheritance


Delayed onset Variable expression & Penetrance Pleiotropy -Single gene and multiple phenotypic effects New mutation

Genetic heterogeneity

AUTOSOMAL RECESSIVE INHERITANCE The recessive trait is expressed only in homozygous state. The homozygote receives one abnormal (recessive) gene from each parent. The trait appears only in sibs. The pedigree analysis of an autosomal recessive trait presents following features

CHARACTERISTICS OF AUTOSOMAL RECESSIVE INHERITANCE


1. An autosomal recessive phenotype, if it appears in more than one member of a kindred, typically is seen only in sibship of the proband not in parents, offsprings or other relatives. 2. For most autosomal recessive diseases males and females are equally likely to be affected. 3. Parents of an affected child are symptomatic carriers of mutant alleles. 4. Parents of the affected person may in some cases be consanguineous. This is especially likely if the gene responsible for the condition is rare in the population. 5. The recurrence risk for each sib of the affected proband is 1 in 4.

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