Question

Indicate the inheritance pattern, genomic location and mutation in any two **** caused by single gene mutations which follow mendelian inheritance. Also, specify the genomic location in any two **** resulting from gene polymorphisms with complex inheritance.

Answer 1

| Single-gene mutations which follow mendelian inheritance | Gene polymorphisms which has complex inheritance |
| Cystic Fibrosis (Cystic Fibrosis Transmembrane Conductance Regulator CFTR gene)1. Inheritance: autosomal recessive disease2. Genomic location: Chromosome 7 (7q31.2)3. Mutation: The most common mutation is a deletion of 3 bps resulting in the loss of codon no. 508, which codes for phenylalanine | Common late-onset Alzheimer' disease1. Inheritance: Major cause is epsilon4 allele of the gene coding for apolipoproteinE (APOE)2. Genomic location: Chromosome 19 (19q13) and recently Chromosome 10 (10q21). |
| Huntington **** (Huntingtin gene HTT)**1. Inheritance: autosomal dominant2. Location: Chrosome 4 (4p16.3)3. Mutation: increased number of CAG repeats more than 35 times | Migraine1. Susceptibility locus: Chromosome 6p12.2 - 6p21.1 and Chromosome 1q31 |