A novel P gene mutation in a Chinese family with oculocutaneous albinism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 614-617, 2006.
Article
in Zh
| WPRIM
| ID: wpr-285067
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate gene mutations of a consanguineous family with two oculocutaneous albinism (OCA) patients.</p><p><b>METHODS</b>Genomic DNA was prepared from peripheral leukocytes. All of the exons and flanking introns of P gene and TYR gene were PCR-direct-sequenced. Hha I restriction fragment length polymorphism in codon 787 of the P gene was studied in the family and 102 unrelated normal Chinese individuals.</p><p><b>RESULTS</b>Although no mutations were found in TYR gene, a missense mutation A787T was found in P gene. Two patients of the family were both homozygous for A787T. Their parents and brother were heterozygous for the mutation. The mutation was not observed among 102 normally pigmented subjects.</p><p><b>CONCLUSION</b>The A787T mutation is not a common polymorphism among normal Chinese and it seems most likely to be a pathological OCA2 mutation. This is the first report on the study of gene diagnosis in Chinese OCA2 patients.</p>
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
/
Membrane Transport Proteins
/
Codon
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Introns
/
Sequence Homology, Nucleic Acid
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China
/
Exons
Limits:
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2006
Type:
Article