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HLA - ABC连锁不平衡分析:配子关联强度随图谱距离增加而降低。

Analysis of the HLA-ABC linkage disequilibrium: decreasing strength of gametic association with increasing map distance.

作者信息

Hiller C, Bischoff M, Schmidt A, Bender K

出版信息

Hum Genet. 1978 Apr 24;41(3):301-12. doi: 10.1007/BF00284764.

DOI:10.1007/BF00284764
PMID:649158
Abstract

1242 HLA-ABC haplotypes of the North German population (Hambrug) as deduced by family analyses are described. They are in perfect agreement with recently published data by Mayr (1977) from Austria (Vienna) in all parameters tested: frequency of the single HLA-alleles, haplotype distribution and linkage disequilibrium values. Gametic association studies revealed that 69.4% of the B and C genes (map distance 0.2cM) 36.9% of the A and C genes (0.6 cM), but only 23.2% of the A and B genes (0.8 cM) were significantly more often combined than expected due to their frequencies. From these findings it seems likely that the linkage disequilibrium within the MHC is rather due to a short evolutionary period than to selective forces. Some observations as to the most common European haplotype A1,B8 are discussed.

摘要

本文描述了通过家系分析推导得出的1242种德国北部人群(汉堡)的HLA - ABC单倍型。在所有测试参数方面,它们与迈尔(1977年)近期发表的来自奥地利(维也纳)的数据完全一致:单个HLA等位基因的频率、单倍型分布以及连锁不平衡值。配子关联研究表明,B和C基因(图距0.2厘摩)中有69.4%、A和C基因(0.6厘摩)中有36.9%,但A和B基因(0.8厘摩)中仅有23.2%的组合频率显著高于根据其频率预期的频率。从这些发现来看,MHC内的连锁不平衡似乎更多是由于进化时间短而非选择压力所致。文中还讨论了关于欧洲最常见单倍型A1,B8的一些观察结果。

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Analysis of the HLA-ABC linkage disequilibrium: decreasing strength of gametic association with increasing map distance.HLA - ABC连锁不平衡分析:配子关联强度随图谱距离增加而降低。
Hum Genet. 1978 Apr 24;41(3):301-12. doi: 10.1007/BF00284764.
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本文引用的文献

1
Assignment of the major histocompatibility complex to chromosome No. 6 in a family with a pericentric inversion.一个患有臂间倒位的家族中主要组织相容性复合体定位于6号染色体。
Hum Hered. 1974;24(3):273-84. doi: 10.1159/000152660.
2
Genetic organization and evolution of the mouse H-2 region: a duplication model.小鼠H-2区域的遗传组织与进化:一种重复模型。
Transplant Proc. 1971 Mar;3(1):176-9.
3
Localization of HLA on the short arm of chromosome 6.人类白细胞抗原(HLA)在6号染色体短臂上的定位。
日本备解素因子B的多态性。一种罕见变异体的描述以及与HLA和C2关联的数据。
Hum Genet. 1982;60(1):42-5. doi: 10.1007/BF00281262.
4
Familial rheumatoid arthritis: linkage of HLA to disease susceptibility locus in four families where proband presented with juvenile rheumatoid arthritis.家族性类风湿关节炎:在先证者患青少年类风湿关节炎的四个家族中,HLA与疾病易感性位点的连锁关系。
J Clin Invest. 1980 Mar;65(3):629-42. doi: 10.1172/JCI109708.
Hum Genet. 1977 Jun 30;37(2):131-9. doi: 10.1007/BF00393575.
4
HLA-A, B, C gene and haplotype frequencies in Vienna. An analysis of family data.维也纳的HLA - A、B、C基因及单倍型频率。家族数据分析。
Hum Genet. 1977 Jun 10;37(1):41-8. doi: 10.1007/BF00293770.
5
Haplotype analysis of the linkage group HLA-A:HAL-B:Bf and its bearing on the interpretation of the linkage disequilibrium.连锁群HLA - A:HAL - B:Bf的单倍型分析及其对连锁不平衡解释的影响
Hum Genet. 1977 Apr 15;36(2):191-6. doi: 10.1007/BF00273257.
6
Assignment of the major histocompatibility complex to a region of the short arm of human chromosome 6.将主要组织相容性复合体定位于人类6号染色体短臂的一个区域。
Proc Natl Acad Sci U S A. 1977 Mar;74(3):1147-51. doi: 10.1073/pnas.74.3.1147.