Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families
نویسندگان
چکیده
منابع مشابه
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism
BACKGROUND Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively. OBJECTIVE The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families. PATIENTS AND METHODS Four non-consangu...
متن کاملP gene mutations associated with oculocutaneous albinism type II (OCA2).
Oculocutaneous albinism type II (OCA2) is the most common form of albinism in humans. OCA2 has been previously associated with mutations of the P gene, the human homologue to the murine pink-eyed dilution gene. The P gene encodes a 110 kDa protein containing 12 potential membrane spanning domains and is associated with melanosomal membranes. The specific function of the P protein is currently u...
متن کاملGenetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.
PURPOSE Oculocutaneous albinism type 1 (OCA1) patients demonstrate a partial or total lack of melanin in the skin, hair and eye. OCA1 is an autosomal recessive genetic disorder caused by mutations in the TYR gene located at chromosome band 11q14-q25. The purpose of this study was to carry out genetic analysis of OCA1 in Indian families. METHODS Genomic DNA was isolated from blood leukocytes o...
متن کاملIdentification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.
The TYR gene (MIM #6069333) is located at position 11q14.3 on the human chromosome, and encodes tyrosinase, which is expressed in melanocytes and controls the biosynthesis of melanin. Most TYR mutations eliminate the activity of tyrosinase, preventing melanocytes from producing any melanin throughout life. People with this form of albinism have white hair, light-coloured eyes and very pale skin...
متن کاملTwo Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1)
Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR) gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin. In this study, mutations in the TYR gene of 30 unrelated Iranian OCA1 patients and 100 healthy i...
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ژورنال
عنوان ژورنال: Meta Gene
سال: 2018
ISSN: 2214-5400
DOI: 10.1016/j.mgene.2018.03.007