DNA-BASED CARRIER DETECTION AND PRENATAL-DIAGNOSIS OF TYROSINASE-NEGATIVE OCULOCUTANEOUS ALBINISM (OCA1A)

被引：4

作者：

FALIKBORENSTEIN, TC

HOLMES, SA

BOROCHOWITZ, Z

LEVIN, A

ROSENMANN, A

SPRITZ, RA

机构：

[1] UNIV WISCONSIN,DEPT MED GENET,MADISON,WI 53706

[2] UNIV WISCONSIN,DEPT PEDIAT,MADISON,WI 53706

[3] HADASA EIN KAREM MED CTR,JERUSALEM,ISRAEL

来源：

PRENATAL DIAGNOSIS | 1995年 / 15卷 / 04期

关键词：

OCULOCUTANEOUS ALBINISM; TYROSINASE; PRENATAL DIAGNOSIS;

D O I：

10.1002/pd.1970150408

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe molecular prenatal diagnosis and carrier detection of tyrosinase-negative oculocutaneous albinism (OCA1A) in two families. In one family, we carried out DNA-based prenatal diagnosis of OCA1A. In the other family, mutation analysis and carrier detection obviated the need for prenatal diagnosis. Molecular analysis is safer and probably more accurate than fetoscopy and fetal scalp biopsy, and should become the method of first choice for prenatal diagnosis of OCA1.

引用

页码：345 / 349

页数：5

共 14 条

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