Board P G, Chapple R, Coggan M
Department of Human Genetics, John Curtin School of Medical Research, Australian National University, Canberra.
Am J Hum Genet. 1988 May;42(5):712-7.
Several RFLPs have been detected using a cDNA fragment encoding the amino-terminal half of the A subunit of factor XIII. The RFLPs show little linkage disequilibrium and form many different haplotypes that can be used to identify chromosomes transmitting factor XIII A subunit deficiency. Southern blot analysis of three deficient individuals from two families showed that, in these cases, factor XIII A subunit deficiency did not result from a major gene deletion or rearrangement. Factor XIII A subunit deficiency was found to be associated with three different haplotypes, suggesting heterogeneity in the mutations causing this disorder.
利用编码凝血因子 XIII A 亚基氨基末端一半的 cDNA 片段,已检测到几种限制性片段长度多态性(RFLP)。这些 RFLP 显示出很少的连锁不平衡,并形成许多不同的单倍型,可用于识别传递凝血因子 XIII A 亚基缺乏症的染色体。对来自两个家族的三名缺陷个体进行的 Southern 印迹分析表明,在这些病例中,凝血因子 XIII A 亚基缺乏并非由主要基因缺失或重排所致。发现凝血因子 XIII A 亚基缺乏与三种不同的单倍型相关,提示导致该疾病的突变存在异质性。