Download MBBS Biochemistry PPT 17 Basic Genetics Lecture Notes

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The picture is created by photographing the cell during mitosis

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What can be learnt from making a karyotype?

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Monosomy (Turner syndrome)

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Trisomy 21 Down syndrome

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Klinefelter syndrome

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Chromatin/Chromosome/Chromatid

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(Euchromatin and Heterochromatin)

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Chromatin :

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Euchromatin and Heterochromatin

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Gene/ Allele/ Locus

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Gene:Portion of a chromosome that

serves as the basic unit of heredity

Allele:Pair of genes that code for

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polypeptide s that express the

same physical trait are called alleles

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Locus:Specific position of a gene

on chromosome

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3p22.1

Cytogenetic location

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Genotype:

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Combination of alleles of a gene carried by an organism

Phenotype:

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Expression of alleles of a gene carried by an organism

Homozygous:

Having two similar alleles

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Homozygous dominant: Having two copies of the

same dominant allele

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Homozygous recessive: Having two copies of the

same recessive allele

Heterozygous:

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Having two different alleles, the dominant allele is expressed

Carrier:Heterozygous carrier of a recessive disease causing allele16

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Cell Division :Mitosis and Meiosis

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Nondisjunction

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Aneuploidy and Polyploidy

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Aneuploidy

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2n+1= Trisomy

2n-1= Monosomy

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2n-2= Nullisomy

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The eukaryotic cell cycle

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