Revised transthyretin Ile 122 allele frequency in African-Americans

被引:83
作者
Jacobson, DR
Pastore, R
Pool, S
Malendowicz, S
Kane, I
Shivji, A
Embury, SH
Ballas, SK
Buxbaum, JN
机构
[1] NYU, SCH MED, DEPT MED, NEW YORK, NY 10010 USA
[2] VET ADM MED CTR, RES SERV, NEW YORK, NY 10010 USA
[3] UNIV CALIF SAN FRANCISCO, SCH MED, DEPT MED, SAN FRANCISCO, CA 94143 USA
[4] SAN FRANCISCO GEN HOSP, SAN FRANCISCO, CA 94110 USA
[5] THOMAS JEFFERSON UNIV, CARDEZA FDN HEMATOL RES, PHILADELPHIA, PA 19107 USA
关键词
D O I
10.1007/s004390050199
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
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页码:236 / 238
页数:3
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