Explain the diseases caused by single gene mutations following mendeli

1.	Explain the diseases caused by single gene mutations following mendelian inheritance specifying the genomic location, inheritance pattern and mutation.
Answer» Cystic Fibrosis (Cystic Fibrosis Trans membrane Conductance Regulator CFTR gene) 1. Inheritance: autosomal recessive disease 2. 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 Huntington disease (Hunting tin gene HTT) 1. Inheritance: autosomal dominant 2. Location: Chrosome 4 (4p16.3) 3. Mutation: increased number of CAG repeats more than 35 times

Explain the diseases caused by single gene mutations following mendelian inheritance specifying the genomic location, inheritance pattern and mutation.

Answer»

Cystic Fibrosis (Cystic Fibrosis Trans membrane Conductance Regulator CFTR gene)

1. Inheritance: autosomal recessive disease

2. 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

Huntington disease (Hunting tin gene HTT)

1. Inheritance: autosomal dominant

2. Location: Chrosome 4 (4p16.3)

3. Mutation: increased number of CAG repeats more than 35 times

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Explain the diseases caused by single gene mutations following mendelian inheritance specifying the genomic location, inheritance pattern and mutation.

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