Cystic Fibrosis in the African Diaspora
Cystic Fibrosis in the African Diaspora
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DOI：
10.1513/annalsats.201606-481fr
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发表时间：
2017-01-01
影响因子：
8.3
通讯作者：
Pepper, Michael S.
中科院分区：
文献类型：
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作者：
Stewart, Cheryl;Pepper, Michael S.
识别导致囊性纤维化（CF）的突变对于做出早期明确的诊断非常重要，这反过来又与更好的健康和更长的预期寿命有关。在非洲裔患者中，分子诊断经常受到以下事实的混淆：大多数用于鉴定致病突变的研究都是在欧洲人群中进行的，而CF致病突变往往具有人群特异性。我们对已发表的数据进行了一项调查，目的是确定美洲非洲裔患者中的致病性CF突变。我们发现，仅在6个国家检测了1，584条染色体，其中876个等位基因（55.3%）仍未确定。共发现59个突变。其中，41种已被证明会导致CF，17种没有相关的功能研究，1种（R117 H）具有不同的临床后果。在非洲裔患者中发现的最常见的突变是：Delta F508（29.4%在美国、哥伦比亚、巴西和委内瑞拉发现）; 3120+1G > A（在巴西、美国和哥伦比亚发现了8.4%）; G85 E（在巴西鉴定出3.8%）; 1811+1.6kbA > G（在哥伦比亚鉴定出3.7%）;和1342-1G > C（在美国鉴定出3.1%）。大多数已确定的突变（81.4%）仅在一个国家进行了描述。我们的研究结果表明，有必要充分表征散居人群中的CF突变谱，以提高这些患者的诊断准确性并促进治疗。
Identifying mutations that cause cystic fibrosis (CF) is important for making an early, unambiguous diagnosis, which, in turn, is linked to better health and a greater life expectancy. In patients of African descent, a molecular diagnosis is often confounded by the fact that the majority of investigations undertaken to identify causative mutations have been conducted on European populations, and CF-causing mutations tend to be population specific. We undertook a survey of published data with the aim of identifying causative CF mutations in patients of African descent in the Americas. We found that 1,584 chromosomes had been tested in only 6 countries, of which 876 alleles (55.3%) still remained unidentified. There were 59 mutations identified. Of those, 41 have been shown to cause CF, 17 have no associated functional studies, and one (R117H) is of varying clinical consequence. The most common mutations identified in the patients of African descent were: Delta F508 (29.4% identified in the United States, Colombia, Brazil, and Venezuela); 3120+1G > A (8.4% identified in Brazil, the United States, and Colombia); G85E (3.8% identified in Brazil); 1811+1.6kbA > G (3.7% identified in Colombia); and 1342-1G > C (3.1% identified in the United States). The majority of the mutations identified (81.4%) have been described in just one country. Our findings indicate that there is a need to fully characterize the spectrum of CF mutations in the diaspora to improve diagnostic accuracy for these patients and facilitate treatment.