Carrillo Pérez M D, Fragoso Herrera R, Cisneros Vega B, Amparo Esparza M, Cantú J M, Montañez Ojeda C
División de Genética, Universidad de Guadalajara, IMSS, Jalisco, México.
Arch Med Res. 1993 Summer;24(2):139-42.
The frequency of alleles, intragenic (intron 18) and extragenic (DXS52) Bcl I RFLPs was investigated in a sample of the Mexican population. Altogether 33 X chromosomes at R8c locus and 30 at DXS52 locus were studied. The allele frequencies found at the F8c locus were similar to those reported in the majority of other populations. The observed heterozygosity for the intragenic and extragenic markers were 0.57 and 0.64, respectively. By using these two RFLPs 15 females at risk in five independent families with hemophilia A were investigated; ten of them could be identified and five excluded as carriers.
在墨西哥人群样本中研究了等位基因、基因内(内含子18)和基因外(DXS52)Bcl I限制性片段长度多态性(RFLPs)的频率。共研究了R8c位点的33条X染色体和DXS52位点的30条X染色体。在F8c位点发现的等位基因频率与大多数其他人群报道的频率相似。基因内和基因外标记的观察杂合度分别为0.57和0.64。利用这两种RFLPs对5个独立的甲型血友病家庭中15名有风险的女性进行了研究;其中10名可被鉴定为携带者,5名被排除为携带者。