Sequence analysis of the human tyrosinase promoter from a patient with tyrosinase-negative oculocutaneous albinism

被引：3

作者：

Matsunaga, J ^{[1
]}

Dakeishi, M ^{[1
]}

Miyamura, Y ^{[1
]}

Tomita, Y ^{[1
]}

机构：

[1] AKITA UNIV,SCH MED,DEPT DERMATOL,AKITA 010,JAPAN

来源：

PIGMENT CELL RESEARCH | 1997年 / 10卷 / 1-2期

关键词：

oculocutaneous albinism; tyrosinase; mutation; polymorphism;

D O I：

10.1111/j.1600-0749.1997.tb00468.x

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

We examined the tyrosinase gene from a patient with tyrosinase-negative oculocutaneous albinism (OCA). First we studied the protein coding region, exon/intron junctions, and the proximal promoter region (positions -300 to +1) of her tyrosinase gene by direct sequencing. Although the results showed that she was heterozygote for the R77Q mutation, we could find no other mutation. To find a second mutation and compare the sequence in the 5'-flanking region of her tyrosinase gene between two OCA alleles, we amplified a 2422-bp stretch (positions -2065 to +357, including R77Q mutation site) by PCR, and cloned it into a plasmid vector, As a result, we discovered a difference between two OCA alleles in the GA repeat region. Therefore, we expect that the polymorphism in the GA repeat region of the tyrosinase gene will be used as a flanking marker of the OCA allele.

引用

页码：64 / 67

页数：4

共 10 条

[1] RFLP FOR MBOI IN THE HUMAN TYROSINASE (TYR) GENE DETECTED BY PCR [J].