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与波利尼西亚人因子VIII和因子IX基因相关的限制性片段长度多态性。

Restriction fragment length polymorphisms associated with the factor VIII and factor IX genes in Polynesians.

作者信息

Van-de-Water N S, Ridgway D, Ockelford P A

机构信息

Department of Haematology, Auckland Hospital, New Zealand.

出版信息

J Med Genet. 1991 Mar;28(3):171-6. doi: 10.1136/jmg.28.3.171.

Abstract

New Zealand Maoris (72 X chromosomes) have been compared with Pacific Island Polynesians (121 X chromosomes) and Caucasian New Zealanders (51 X chromosomes) as a control group to determine the allelic frequency of six RFLPs associated with the genes for two X linked diseases (haemophilia A and haemophilia B). RFLPs examined were BclI, XbaI, and BglI within the factor VIII gene, the factor VIII extragenic TaqI system, and the factor IX intragenic TaqI and XmnI sites. The information obtained facilitates the design of strategies for both carrier detection and prenatal diagnosis of haemophilia A within these groups. Strong linkage disequilibrium was observed between the factor VIII BclI and XbaI sites in Polynesians. Genetic counselling for Polynesians with haemophilia B continues, however, to rely on phenotypic diagnosis. The RFLP data from the two separate loci on the X chromosome in Polynesians show similarities with Chinese and Japanese populations, reinforcing theories of an early Polynesian ancestry originating in east Asia.

摘要

已将新西兰毛利人(72条X染色体)与太平洋岛波利尼西亚人(121条X染色体)以及作为对照组的新西兰白种人(51条X染色体)进行比较,以确定与两种X连锁疾病(甲型血友病和乙型血友病)相关的六个限制性片段长度多态性(RFLP)的等位基因频率。所检测的RFLP包括凝血因子VIII基因内的BclI、XbaI和BglI、凝血因子VIII基因外TaqI系统以及凝血因子IX基因内TaqI和XmnI位点。所获得的信息有助于在这些人群中设计甲型血友病携带者检测和产前诊断的策略。在波利尼西亚人中,观察到凝血因子VIII BclI和XbaI位点之间存在强连锁不平衡。然而,对于患有乙型血友病的波利尼西亚人,遗传咨询仍依赖于表型诊断。波利尼西亚人X染色体上两个独立位点的RFLP数据显示与中国和日本人群相似,这强化了波利尼西亚人起源于东亚的早期祖先理论。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/980e/1016800/559efce70880/jmedgene00029-0031-a.jpg

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