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Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA.

作者信息

Zoghbi H Y, Daiger S P, McCall A, O'Brien W E, Beaudet A L

机构信息

Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030.

出版信息

Am J Hum Genet. 1988 Jun;42(6):877-83.

PMID:2897163
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1715200/
Abstract

A 1,161-bp EcoRI fragment from the 5' end of the cDNA coding for human factor XIIIa (gene symbol F13A) was used to identify RFLPs in human DNAs. Several different RFLPs were identified with 15 different restriction enzymes. Two RFLPs detected with the restriction enzyme BamHI and one multiallelic RFLP detected with BclI were used for further studies. Linkage relationships between these three polymorphisms and the HLA complex were studied in DNA samples from the 40 Centre d'Etude du Polymorphisme Humain families. Combining all of the data to form highly informative haplotypes, we found linkage to HLA with a maximum lod score of 11.44 at a recombination fraction of .25 for males and .35 for females. These three RFLPs at the FXIIIa locus provide a highly informative marker for the short arm of chromosome 6 with an observed heterozygosity of 91%. Using this marker and the HLA locus, one can confirm or exclude the assignment of gene loci to most of chromosome 6p.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abc4/1715200/b2816ecfdc42/ajhg00129-0087-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abc4/1715200/1c4975745b38/ajhg00129-0087-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abc4/1715200/b2816ecfdc42/ajhg00129-0087-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abc4/1715200/1c4975745b38/ajhg00129-0087-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abc4/1715200/b2816ecfdc42/ajhg00129-0087-b.jpg

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Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA.
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本文引用的文献

1
An electrophoretic and quantitative analysis of coagulation factor XIII in normal and deficient subjects.正常受试者和凝血因子 XIII 缺乏受试者中凝血因子 XIII 的电泳及定量分析。
Br J Haematol. 1980 Aug;45(4):633-40. doi: 10.1111/j.1365-2141.1980.tb07186.x.
2
Genetic heterogeneity of factor XIII deficiency: first description of unstable A subunits.凝血因子XIII缺乏症的遗传异质性：不稳定A亚基的首次描述。
Br J Haematol. 1981 Jun;48(2):337-42.
3
Coagulation factor XIII: a useful polymorphic genetic marker.凝血因子 XIII：一种有用的多态性遗传标记。
青少年肌阵挛癫痫患者家系中特发性全身性癫痫（IGE）与6号染色体短臂上标记位点的连锁分析：HLA区域无癫痫致病位点的证据
Am J Hum Genet. 1993 Sep;53(3):652-62.
4
Molecular heterogeneity of autosomal dominant cerebellar ataxia: analysis of flanking microsatellites of the spinocerebellar ataxia 1 locus in a northern European family unequivocally demonstrates non-linkage.常染色体显性遗传性小脑共济失调的分子异质性：对一个北欧家族中脊髓小脑共济失调1型基因座侧翼微卫星的分析明确显示不存在连锁关系。
Hum Genet. 1993 May;91(4):362-6. doi: 10.1007/BF00217357.
5
Molecular definition of bovine argininosuccinate synthetase deficiency.牛精氨琥珀酸合成酶缺乏症的分子定义。
Proc Natl Acad Sci U S A. 1989 Oct;86(20):7947-51. doi: 10.1073/pnas.86.20.7947.
6
Three F XIIIA gene loci?
Hum Genet. 1989 Dec;84(1):102. doi: 10.1007/BF00210687.
7
Hemopoietic origin of factor XIII A subunits in platelets, monocytes, and plasma. Evidence from bone marrow transplantation studies.血小板、单核细胞和血浆中因子 XIII A 亚基的造血起源。来自骨髓移植研究的证据。
J Clin Invest. 1989 Sep;84(3):787-92. doi: 10.1172/JCI114237.
8
Lack of close linkage between human coagulation factor F13A and HLA class I molecules.人凝血因子F13A与I类人白细胞抗原分子之间缺乏紧密连锁。
Immunogenetics. 1989;30(1):58-9. doi: 10.1007/BF02421472.
9
Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis.
Am J Hum Genet. 1989 Feb;44(2):255-63.
10
Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population.常染色体显性共济失调：来自古巴奠基者效应人群中基因座异质性的遗传学证据。
Am J Hum Genet. 1990 Jun;46(6):1163-77.
Hum Genet. 1984;67(2):132-5. doi: 10.1007/BF00272987.
4
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.一种将DNA限制性内切酶片段放射性标记至高比活度的技术。
Anal Biochem. 1983 Jul 1;132(1):6-13. doi: 10.1016/0003-2697(83)90418-9.
5
Construction of a genetic linkage map in man using restriction fragment length polymorphisms.利用限制性片段长度多态性构建人类遗传连锁图谱。
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6
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7
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8
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Report of the Committee on Methods of Linkage Analysis and Reporting.连锁分析与报告方法委员会报告
Cytogenet Cell Genet. 1985;40(1-4):356-9. doi: 10.1159/000132186.