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
Dans Chinois
| WPRIM
| ID: wpr-285067
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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Protéines de transport membranaire
/
Codon
/
Analyse de mutations d'ADN
/
Données de séquences moléculaires
/
Séquence nucléotidique
/
Introns
/
Similitude de séquences d'acides nucléiques
/
Chine
/
Exons
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Mâle
Pays comme sujet:
Asie
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2006
Type:
Article
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