Detection of a novel splicing mutation causing analbuminemia in a Libyan family

被引：7

作者：

Bibi, Amina ^{[1
]}

Jouini, Latifa ^{[1
]}

Sahli, Chaima Abdelhafidh ^{[1
]}

Fredj, Sondess Hadj ^{[1
]}

Abidi, Kamel ^{[2
]}

Gharsallah, Lamia ^{[2
]}

Mathlouthi, Sondess ^{[1
]}

Ouali, Faida ^{[1
]}

Siala, Hajer ^{[1
]}

Belhaj, Raja ^{[1
]}

Sammoud, Azza ^{[2
]}

Messaoud, Taieb ^{[1
]}

机构：

[1] Childrens Hosp, Biochem Lab, Tunis 1007, Tunisia

[2] Childrens Hosp, Dept Pediat A, Tunis 1007, Tunisia

来源：

CLINICAL BIOCHEMISTRY | 2012年 / 45卷 / 15期

关键词：

Analbuminemia; Genetic disorder; Splicing mutation; DHPLC; DNA sequencing; ALBUMIN GENE; SERUM-ALBUMIN;

D O I：

10.1016/j.clinbiochem.2012.05.007

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Background and objectives: Analbuminemia is a very rare autosomal recessive disorder. It is an allelic heterogeneous defect caused by a variety of mutations within the albumin gene. We describe in this report two new cases of analbuminemia in Libyans. Design and methods: The 14 coding exons of the human serum albumin (HSA) gene and their intron-exon junctions were PCR amplified. The products were screened for mutations by Denaturing High Performance Liquid Chromatography (DHPLC). Samples with altered DHPLC profiles were sequenced. Results: DNA sequencing revealed the presence of a novol homozygous G -> T transition in the first base of intron 11 (c.1428 + 1G>T), in both children. This mutation destroys the GT consensus donor sequence found at the 5' end of most intervening sequences and would cause the defective pre-mRNA splicing. Conclusion: Molecular diagnosis based on DHPLC and DNA sequencing represents a powerful tool to study molecular defects causing analbuminemia. (C) 2012 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

引用

页码：1183 / 1186

页数：4

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