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一个新的人类高变位点(K29)定位于2号染色体的q37.3区域,并显示出一种指纹图谱。

A new human hypervariable locus (K29) maps to the q37.3 region of chromosome 2 and reveals a fingerprint.

作者信息

Parmentier M, Passage E, Mattei M G, Vassart G

机构信息

IRIBHN, Université libre de Bruxelles, Belgium.

出版信息

Genomics. 1991 Nov;11(3):760-2. doi: 10.1016/0888-7543(91)90086-t.

DOI:10.1016/0888-7543(91)90086-t
PMID:1840562
Abstract

A human genomic library was screened with a 30-base oligomer corresponding to the 5' end of the human calretinin cDNA. A clone that contains a minisatellite composed of 21 imperfect repeats of a 37-bp sequence was isolated. The consensus (GAGGGAGGAACTGGGACGCGTGCATGTTTGCATTCTC) incidentally shares 14 consecutive matches with the oligomer used as a probe, and it was shown that the clone did not belong to the calretinin locus. The minisatellite, named K29, was used as a probe on Southern blots at high stringency. After HaeIII, MboI, or HinfI digestion, it detected a single hypervariable locus, with 65% heterozygosity among Caucasian individuals. The probe used at low stringency revealed a fingerprint, with an average of four bands in addition to the locus-specific pattern. Mendelian inheritance was assessed on pedigrees. The K29 minisatellite was mapped by in situ hybridization to the very end of the long arm of chromosome 2 (2q37.3 band), at close proximity of the Fra2J locus, and is referred to as the D2S88 locus in the genome database.

摘要

用人钙视网膜蛋白cDNA 5'端对应的30个碱基的寡聚物筛选人基因组文库。分离出一个包含由37个碱基序列的21个不完全重复组成的小卫星的克隆。该共有序列(GAGGGAGGAACTGGGACGCGTGCATGTTTGCATTCTC)偶然与用作探针的寡聚物有14个连续匹配,并且显示该克隆不属于钙视网膜蛋白基因座。这个名为K29的小卫星在高严谨度的Southern印迹中用作探针。用HaeIII、MboI或HinfI消化后,它检测到一个单一的高变位点,在高加索个体中有65%的杂合性。在低严谨度下使用的探针显示出一种指纹图谱,除了位点特异性模式外平均还有四条带。在系谱上评估孟德尔遗传。通过原位杂交将K29小卫星定位到2号染色体长臂的末端(2q37.3带),靠近Fra2J基因座,在基因组数据库中被称为D2S88基因座。

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