Detection of a novel splice-site mutation that results in skipping exon 3 of the WASP gene in a patient with Wiskott-Aldrich syndrome

被引：5

作者：

Ariga, T ^{[1
]}

Yamada, M ^{[1
]}

Pudua, FR ^{[1
]}

Sakiyama, Y ^{[1
]}

机构：

[1] NATL KIDNEY INST,DIV IMMUNOL,QUEZON 1100,PHILIPPINES

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE | 1996年 / 1317卷 / 03期

关键词：

Wiskott-Aldrich syndrome; Wiskott-Aldrich protein gene; splice mutation;

D O I：

10.1016/S0925-4439(96)00058-0

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Wiskott-Aldrich syndrome (WAS) is one of the primary immunodeficiency diseases, that is inherited as an X-linked recessive trait. Since the responsible gene, the WASP gene, has been identified, various mutations for patients with WAS have been reported. We found a novel splice-site mutation in a patient with clinically diagnosed WAS. The mutation was a replacement of ag by aa in an acceptor site of intron 2 of the WASP gene. Sequencing studies of the WASP cDNA of the patient revealed that exon 3 of the WASP gene was abnormally missing due to a splicing defect.

引用

页码：158 / 160

页数：3

共 11 条

[1]

ALDRICH RA, 1954, PEDIATRICS, V13, P133

[2] A NEWLY RECOGNIZED POINT MUTATION IN THE CYTOCHROME-B(558) HEAVY-CHAIN GENE REPLACING ALANINE(57) BY GLUTAMIC-ACID, IN A PATIENT WITH CYTOCHROME-B POSITIVE X-LINKED CHRONIC GRANULOMATOUS-DISEASE [J].