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通过限制性酶切位点多态性和一个6 kb DNA片段的插入/缺失所定义的人类免疫球蛋白λ IGLV7S1和IGLV1S1基因的单倍型

Haplotypes of the human immunoglobulin lambda IGLV7S1 and IGLV1S1 genes defined by restriction-site polymorphism and insertion/deletion of a 6-kb DNA fragment.

作者信息

Chuchana P, Frippiat J P, Blancher A, Lefranc G, Lefranc M P

机构信息

Laboratoire d'Immunogénétique Moléculaire, LIGM, URA CNRS 1191, Université Montpellier II, France.

出版信息

Am J Hum Genet. 1993 Aug;53(2):518-25.

Abstract

Haplotypes were defined in the human immunoglobulin lambda locus by using three probes--V lambda VII, V lambda A, and V lambda I--hybridized to BamHI, KpnI, EcoRI, and HindIII digests. Four KpnI alleles were described. Two of them, 13 kb and 16 kb, detected with both the V lambda VII and V lambda A probes, were correlated with 4.6-kb and 10.5-kb KpnI fragments, respectively, which hybridize to the V lambda I probe. The two others (17 kb and 24 kb) were detected with the three probes V lambda VII, V lambda A, and V lambda I. Moreover, we show that two of those haplotypes may reflect an insertion of 6 kb between V lambda A and V lambda 1S1. Familial studies were performed to demonstrate the Mendelian inheritance. Our results demonstrate the absence of association between the C lambda alleles and V lambda haplotypes.

摘要

通过使用三种探针——VλVII、VλA和VλI——与BamHI、KpnI、EcoRI和HindIII酶切片段杂交,在人类免疫球蛋白λ基因座中定义了单倍型。描述了四个KpnI等位基因。其中两个,13 kb和16 kb,用VλVII和VλA探针均能检测到,分别与4.6 kb和10.5 kb的KpnI片段相关,这两个片段能与VλI探针杂交。另外两个(17 kb和24 kb)用VλVII、VλA和VλI这三种探针均能检测到。此外,我们表明其中两种单倍型可能反映了在VλA和Vλ1S1之间插入了6 kb。进行了家族研究以证明孟德尔遗传。我们的结果表明Cλ等位基因与Vλ单倍型之间不存在关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c94/1682340/033965dd79e9/ajhg00053-0225-a.jpg

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