A novel P gene mutation in a Chinese family with oculocutaneous albinism / 中华医学遗传学杂志
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 614-617, 2006.
Article
en Zh
| WPRIM
| ID: wpr-285067
Biblioteca responsable:
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>
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Linaje
/
Proteínas de Transporte de Membrana
/
Codón
/
Análisis Mutacional de ADN
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
Intrones
/
Homología de Secuencia de Ácido Nucleico
/
China
/
Exones
Límite:
Adult
/
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Año:
2006
Tipo del documento:
Article