Grobbelaar J J, Oosthuizen C J, Madden M V, Bailey S E, Retief A E, Kotze M J
Department of Human Genetics, University of Stellenbosch, Tygerberg, W. Cape.
S Afr Med J. 1995 Apr;85(4):269-71.
Haplotype association studies were performed in 10 unrelated South African families and 1 German immigrant family with familial adenomatous polyposis (FAP). Three DNA probes, recognising five restriction fragment length polymorphisms (RFLPs) around the gene locus for FAP on chromosome 5q, were used. The RFLP analysis was informative or partially informative in all the families studied. Five haplotypes were found to segregate with the disease locus. The predominant association of two of these haplotypes with FAP in the South African families suggests that two mutations may cause the disease in about 70% of families in this population. Meiotic recombination events were detected between the FAP gene and probe M4 (D5S6), but not probes Pi227 (D5S37) and C11p11 (D5S71). Haplotype analysis allowed the preclinical diagnosis of FAP in 5 subjects.
对10个无亲缘关系的南非家庭和1个患有家族性腺瘤性息肉病（FAP）的德裔移民家庭进行了单倍型关联研究。使用了三种DNA探针，它们识别位于5号染色体上FAP基因座周围的五种限制性片段长度多态性（RFLP）。RFLP分析在所有研究的家庭中均具有信息性或部分信息性。发现有五种单倍型与疾病基因座共分离。在南非家庭中，其中两种单倍型与FAP的主要关联表明，在该人群中约70%的家庭中，两种突变可能导致该病。在FAP基因与探针M4（D5S6）之间检测到减数分裂重组事件，但在探针Pi227（D5S37）和C11p11（D5S71）之间未检测到。单倍型分析使得对5名受试者进行了FAP的临床前诊断。
