Jacobson D R, Pastore R, Pool S, Malendowicz S, Kane I, Shivji A, Embury S H, Ballas S K, Buxbaum J N
Department of Medicine, New York University School of Medicine and Research Service, New York Veterans Administration Medical Center 10010, USA.
Hum Genet. 1996 Aug;98(2):236-8. doi: 10.1007/s004390050199.
The transthyretin (TTR) Ile 122 variant is associated with cardiac amyloidosis in individuals of African descent. To determine the prevalence of the allele encoding TTR Ile 122 in African-Americans, we have used PCR and restriction analysis to test DNA from African-Americans from various geographic areas, and found an allele frequency of 66/3376 (0.020), which is higher than the value we previously reported in a much smaller pilot study. Our data indicate that this TTR variant is present at equal frequency in African-Americans throughout the U.S., and suggest that this mutation may be a common, often unrecognized cause of cardiac disease in African-Americans.
转甲状腺素蛋白（TTR）第122位异亮氨酸变体与非洲裔个体的心脏淀粉样变性有关。为了确定编码TTR第122位异亮氨酸的等位基因在非裔美国人中的流行率，我们使用聚合酶链反应（PCR）和限制性分析来检测来自不同地理区域的非裔美国人的DNA，发现等位基因频率为66/3376（0.020），这一频率高于我们之前在一个规模小得多的初步研究中报告的值。我们的数据表明，这种TTR变体在美国各地的非裔美国人中出现的频率相同，并表明这种突变可能是导致非裔美国人患心脏病的一个常见且常未被认识到的原因。
