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一个纽芬兰家族中的HLA/Bf单倍型

HLA/Bf haplotypes in a Newfoundland family.

作者信息

Larsen B, Pepper B, Barnard J M, Farid N R

出版信息

Tissue Antigens. 1978 Jul;12(1):39-43.

PMID:581240
Abstract

HLA/Bf haplotypes were examined in a large three-generation Newfoundland family with a high incidence of Graves' disease. In that family Graves' disease was inherited in association with the haplotype HLA Aw24, Bw39 in some instances and with HLA B8-containing haplotypes in other instances. As all seven members of the family who suffered from Graves' disease were homozygous for the Bf S allele, the study for Bf was uninformative. However, the examination of other HLA/Bf haplotypes disclosed some interesting associations. One-hundred-and-five out of 168 HLA-A, -B, -Bf haplotypes were Bf S. Although numerically deviant, no unusual HLA B/Bf associations were observed. Bf F entered the family only once. A new finding is the association between HLA B27 and Bf S1; the haplotype entered the family once and was passed on to eight family members over three generations. Bf S1 was previously reported in association with HLA B12 or W21. None of these family members had ankylosing spondylitis. The Bf allele F1 entered the family three times, always in association with HLA B18.

摘要

在一个患有格雷夫斯病发病率很高的纽芬兰大三代家庭中对HLA/Bf单倍型进行了检测。在那个家庭中,格雷夫斯病在某些情况下与单倍型HLA Aw24、Bw39一起遗传,而在其他情况下与含HLA B8的单倍型一起遗传。由于该家庭中所有七名患有格雷夫斯病的成员Bf S等位基因均为纯合子,因此对Bf的研究没有提供有用信息。然而,对其他HLA/Bf单倍型的检测揭示了一些有趣的关联。168个HLA-A、-B、-Bf单倍型中有105个是Bf S。虽然在数量上有偏差,但未观察到异常的HLA B/Bf关联。Bf F仅进入该家庭一次。一个新发现是HLA B27与Bf S1之间的关联;该单倍型进入该家庭一次,并在三代中传递给了八名家庭成员。Bf S1此前曾报道与HLA B12或W21有关联。这些家庭成员中没有一人患有强直性脊柱炎。Bf等位基因F1进入该家庭三次,总是与HLA B18相关联。

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