PAX2基因第8外显子中两个单核苷酸多态性的鉴定。

Identification of two single nucleotide polymorphisms in exon 8 of PAX2.

作者信息

Shim H H, Nakamura B N, Cantor R M, Schimmenti L A

机构信息

Department of Human Genetics, UCLA School of Medicine, Los Angeles, California 90095, USA.

出版信息

Mol Genet Metab. 1999 Dec;68(4):507-10. doi: 10.1006/mgme.1999.2931.

DOI:10.1006/mgme.1999.2931

PMID:10607481

Abstract

We estimate the allele frequencies of two single nucleotide polymorphisms (1410 C --> T) and (1521 A --> C) in the coding region of PAX2. The coding region single nucleotide polymorphisms (cSNPs) were identified by sequencing of amplimers of PAX2 exon 8 exhibiting variant migration patterns in the course of genomic DNA mutation screening from patients with renal-coloboma syndrome. Allele frequencies of the two polymorphisms were 0.94 for 1410C and 0.72 for 1521A. Cosegregation analyses of both alleles suggest that they are each in Hardy-Weinberg equilibrium and jointly in linkage equilibrium and may represent ancient polymorphisms. Characterization of PAX2 exon 8 cSNPs will serve as useful tools for mapping at the PAX2 locus.

摘要

我们估计了PAX2编码区两个单核苷酸多态性（1410 C→T）和（1521 A→C）的等位基因频率。通过对肾-虹膜缺损综合征患者基因组DNA突变筛查过程中显示出变异迁移模式的PAX2外显子8扩增子进行测序，鉴定出编码区单核苷酸多态性（cSNPs）。这两个多态性的等位基因频率分别为：1410C为0.94，1521A为0.72。两个等位基因的共分离分析表明，它们各自处于哈迪-温伯格平衡，并且共同处于连锁平衡，可能代表古老的多态性。PAX2外显子8 cSNPs的特征将作为在PAX2基因座进行定位的有用工具。