Autosomal Recessive Inheritance Diseases

Vocabulary flashcards covering key autosomal recessive disorders, their genes, chromosome locations, and affected proteins.

Autosomal Recessive Inheritance

A mode of genetic transmission in which two copies of a mutant allele (one from each parent) are required for a trait or disorder to be expressed.

Cystic Fibrosis

Autosomal recessive disorder; mutations in CFTR gene on chromosome 7 encoding the cystic-fibrosis transmembrane conductance regulator protein.

Phenylketonuria (PKU)

Autosomal recessive disorder; PAH gene mutations on chromosome 12 impair the enzyme phenylalanine hydroxylase.

Albinism (Oculocutaneous type 1)

Autosomal recessive disorder; TYR gene mutations on chromosome 11affect tyrosinase, reducing melanin production.

Sickle Cell Anemia

Autosomal recessive hemoglobinopathy; HBB gene mutation on chromosome 11 alters β-globin

Thalassemia

Autosomal recessive anemia; mutations or deletions in HBA and HBB genes on chromosome 16 and 11 affect α-globin production and beta globin

Alkaptonuria

Autosomal recessive metabolic disorder; HGD gene mutation on chromosome 3 disables homogentisate 1,2-dioxygenase.

Niemann-Pick Disease Type A

Autosomal recessive lysosomal storage disorder; SMPD1 gene mutation on chromosome 11 leads to sphingomyelinase deficiency.

Tay-Sachs Disease

Autosomal recessive lysosomal storage disorder; HEXA gene mutation on chromosome 15 causes hexosaminidase A deficiency.

Xeroderma Pigmentosum (XP)

Autosomal recessive mutations in nucleotide-excision repair genes (e.g., XPA on chr 9, XPC on chr 3)

Ataxia-Telangiectasia (A-T)

Autosomal recessive disorder; ATM gene mutations on chromosome 11 compromise the ATM protein