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[与吉尔伯特综合征相关的A(TA)7TAA基因型在西班牙人群中的分布]

[Distribution of the A(TA)7TAA genotype associated with Gilbert syndrome in the Spanish population].

作者信息

Fernández Salazar J M, Remacha Sevilla A, del Río Conde E, Baiget Bastús M

机构信息

Laboratorio Central. Complejo Hospitalario San Millán-San Pedro. Logroño.

出版信息

Med Clin (Barc). 2000 Oct 28;115(14):540-1.

Abstract

BACKGROUND

We have examined the variation in the promoter region in the gene encoding UGT-1, associated with Gilbert's syndrome, in Spanish population.

PATIENTS AND METHOD

Blood DNA was obtained from 100 blood donors. Polymerase chain reaction (PCR) was used to examine the A(TA)nTAA motif in the promoter region of the UGT-1 gene.

RESULTS

The frequency of the abnormal 7/7 genotype in Spanish population was 9%. The heterozygous 6/7 genotype was identified in 51% of the subjects.

CONCLUSIONS

The frequency of the abnormal allele, similar in different caucasian populations, raise the question whether it would be worthwhile and cost-effective to introduce molecular screening for Gilbert's syndrome in the study of mild, chronic unconjugated hyperbilirubinemia, in the absence of haemolysis or evidence of hepatic injury.

摘要

背景

我们研究了西班牙人群中与吉尔伯特综合征相关的UGT - 1基因启动子区域的变异情况。

患者与方法

从100名献血者中获取血液DNA。采用聚合酶链反应(PCR)检测UGT - 1基因启动子区域的A(TA)nTAA基序。

结果

西班牙人群中异常7/7基因型的频率为9%。51%的受试者被鉴定为杂合6/7基因型。

结论

异常等位基因的频率在不同白种人群中相似,这引发了一个问题,即在无溶血或肝损伤证据的轻度慢性非结合胆红素血症研究中,引入吉尔伯特综合征的分子筛查是否值得且具有成本效益。

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