Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: Report of a novel mutation

被引：8

作者：

Sanchez-Lopez, Josefina Y. ^{[1
]}

Camacho-Torres, Ana L. ^{[1
]}

Ibarra, Bertha ^{[1
,2
]}

Tintos, Jesus A. ^{[1
,2
]}

Perea, Francisco J. ^{[1
]}

机构：

[1] IMSS, Ctr Invest Biomed Occidente, Div Genet, Guadalajara 44340, Jalisco, Mexico

[2] Univ Guadalajara, Ctr Univ Ciencias Salud, Guadalajara 44430, Jalisco, Mexico

来源：

GENETICS AND MOLECULAR BIOLOGY | 2010年 / 33卷 / 01期

关键词：

hereditary spherocytosis; hemolytic anemia; SLC4A1; gene; AE1; protein; band; 3; RENAL TUBULAR-ACIDOSIS; STILBENE DISULFONATE BINDING; BLOOD-GROUP ANTIGEN; BAND-3; MEMPHIS; POLYMORPHISM; EXCHANGER; VARIANT;

D O I：

10.1590/S1415-47572009005000109

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：

We analyzed the SLC4A1 gene in three Mexican patients with Hereditary Spherocytosis (HS). The promoter and all 20 exons were investigated through heteroduplex analysis and DNA sequencing. No DNA changes were detected in one of the three patients. Two well-known polymorphisms, Memphis I and the Diego-a blood group, were detected in another one. In the third, the HS phenotype could be explained by the novel 1885_1888dupCCGG mutation found in heterozygosis. This frameshift mutation is predicted to result in a truncated and unstable protein lacking normal functions.

引用

页码：9 / 11

页数：3

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