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与囊性纤维化基因(CF)相关的单倍型

[Haplotypes associated with the cystic fibrosis gene (CF)].

作者信息

Ferec C

机构信息

Laboratoire de Biologie Moléculaire, Centre Départemental de Transfusion Sanguine, Brest.

出版信息

J Genet Hum. 1988 Dec;36(5):413-24.

PMID:2905729
Abstract

The linkage relationships between the cystic fibrosis locus and six marker loci allowed us to build 122 haplotypes bearing the CF gene and to compare them to the 122 normal haplotypes. We obtained 13 different marker haplotypes associated with the CF chromosomes and 22 with the normals in our population. To examine the possibility of a correlation between the clinical and the genetical polymorphism of the disease haplotype analysis was carried out taking in account age at diagnosis, severity of the disease and a particular clinical subgroup such as meconium ileus or pancreatic sufficiency. The results showed that a particular haplotype (121) is predominant in the severe form of the disease. This may have implication in diagnosis and prognosis of the disease.

摘要

囊性纤维化基因座与六个标记基因座之间的连锁关系使我们能够构建出122种携带CF基因的单倍型,并将它们与122种正常单倍型进行比较。在我们的人群中,我们获得了13种与CF染色体相关的不同标记单倍型和22种与正常染色体相关的标记单倍型。为了研究疾病单倍型临床与遗传多态性之间相关性的可能性,我们进行了单倍型分析,同时考虑了诊断时的年龄、疾病严重程度以及特定的临床亚组,如胎粪性肠梗阻或胰腺功能不全。结果显示,一种特定的单倍型(121)在疾病的严重形式中占主导地位。这可能对疾病的诊断和预后具有重要意义。

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