Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I

被引：18

作者：

Rosatelli, MC

Meloni, A

Faa, V

Saba, L

Crisponi, G

Clemente, MG

Meloni, G

Piga, MT

Cao, A

机构：

[1] CNR CAGLIARI, IST RIC TALASSEMIE & ANEMIE MEDITERRANEE, CAGLIARI, SARDINIA, ITALY

[2] UNIV SASSARI, CLIN PEDIAT & NEONATOL, I-07100 SASSARI, SARDINIA, ITALY

[3] UNIV CAGLIARI, IST PUERICULTURA, I-09121 CAGLIARI, SARDINIA, ITALY

来源：

JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 02期

关键词：

CN1; mutation analysis; Gilbert syndrome;

D O I：

10.1136/jmg.34.2.122

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

This study reports the molecular characterisation of the bilirubin UDP-glucuronosyl-transferase gene (UGT1) in a group of patients of Sardinian descent with Crigler-Najjar syndrome type I and their relatives. Sequence analysis of both UGT1A exon 1 and common exons 2-5 was performed in all patients, leading to the detection of Delta F170 and a novel mutation (470insT), both residing in UGT1A exon 1. All but two heterozygotes for the Delta F170 mutation showed normal serum bilirubin levels. These two subjects were also heterozygous for the sequence variation A(TA)(7)TAA in the promoter region of the UGT1A gene.

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收藏

页码：122 / 125

页数：4

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