墨西哥囊性纤维化患者样本中ΔF508的频率
Frequency of delta F508 in a Mexican sample of cystic fibrosis patients.
作者信息
Orozco L, Salcedo M, Lezana J L, Chávez M, Valdez H, Moreno M, Carnevale A
机构信息
Human Genetics Department, Instituto Nacional de Pediatría, Mexico, DF.
出版信息
J Med Genet. 1993 Jun;30(6):501-2. doi: 10.1136/jmg.30.6.501.
This paper reports the frequency of the delta F508 mutation in a cohort of 50 Mexican patients with cystic fibrosis (CF). The mutation was detected by PCR mediated site directed mutagenesis. delta F508 was found in 39% of CF chromosomes, a frequency lower than that reported in Argentina and Spain. The high rate of CF cases who die undiagnosed, the ethnic origin of Mexican populations, and the limited number of cases studied could account for the low frequency of the delta F508 mutation found in this preliminary report.
本文报告了50名墨西哥囊性纤维化（CF）患者队列中ΔF508突变的频率。该突变通过聚合酶链反应（PCR）介导的定点诱变检测。在39%的CF染色体中发现了ΔF508，该频率低于阿根廷和西班牙报告的频率。CF病例未被诊断就死亡的高比率、墨西哥人群的种族起源以及所研究病例数量有限，可能是本初步报告中发现的ΔF508突变频率较低的原因。
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