Inheritance of human genetic diseas

what is genetics? gene mutation...

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what is genetics?

Genetic Term    Definition

Gene length of DNA that codes for the production of a particular polypeptide

Allele one of the different forms of a gene which occupy the same locus on homologous chromosomes

Locus the position on a chromosome at which a particular gene is found

Phenotype a persons observable characteristics, resulting from an interaction between its genotype and the environment

Genotype genetic make up of an organism.all the alleles that the nucleus of a human cell contains. (homologous and heterozygous)

Dominant always shows it effect on the phenotype

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What is genetics continued....

Recessive shows its effect on the phenotype only when the dominant allele is absent

Autosomes all chromosomes except sex chromosomes (X and Y)

Homologous two chromosomes which contain the same genes but may contain different alleles

Heterozygous having two different alleles of a gene

Homozygous having two identical alleles of a gene

Haploid cells or organisms have only one copy of each gene and chromosome

Diploid  organisms inherit two copies of each gene and chromosome


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Gene Mutation

Mutation is a change in the nucleotide sequence of genetic material caused by copying errors during replication that further lead to bas substitution, insertion or deletion of one or more base pairs.

Substitution point mutation, single nucleotide is substiutied with a different nucleotide that can cause an altered sequene of amino acids during translation which may cause a protein to become ineffective.

Insertion or translocation three breaks in which a segment is removed from one chromosome and then inserted into a broken region of a non homologous chromosome

Deletion chromosome abnormality in which part of a single chromosome has been lost


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