Yip B, Chan V, Chan T K
University Department of Medicine, Queen Mary Hospital, Hong Kong.
Br J Haematol. 1994 Dec;88(4):889-91. doi: 10.1111/j.1365-2141.1994.tb05134.x.
Two multi-allelic microsatellite polymorphisms within the factor VIII gene were studied in 138 Chinese subjects. The allele sizes detected were higher than those found in Caucasian populations, whereas the heterozygosity rates were lower, being 0.5370 for intron 13 and 0.4444 for intron 22 repeats respectively. Their usefulness in diagnosis was compared to other intragenic and extragenic RFLPs, using previous data on the same 31 unrelated haemophilia A families. These intragenic microsatellite repeat polymorphisms were only informative for 18/31 families (58%); however, with the combined use of all existing RFLPs, the cumulative informativeness would be 100%.
在138名中国受试者中研究了凝血因子VIII基因内的两个多等位基因微卫星多态性。检测到的等位基因大小高于白种人群中的等位基因大小，而异合子率较低，内含子13的异合子率为0.5370，内含子22重复序列的异合子率为0.4444。利用之前关于31个无关甲型血友病家庭的相同数据，将它们在诊断中的效用与其他基因内和基因外限制性片段长度多态性（RFLP）进行了比较。这些基因内微卫星重复多态性仅对18/31个家庭（58%）具有信息性；然而，联合使用所有现有的RFLP，累积信息性将达到100%。
