Barton J C, Acton R T
Southern Iron Disorders Center, Birmingham, Alabama, USA.
Genet Med. 2001 Jul-Aug;3(4):294-300. doi: 10.1097/00125817-200107000-00005.
Two unrelated African Americans had hemochromatosis phenotypes and genotypes. We sought to identify origins of their HFE mutations and estimate frequencies of similar cases.
HFE and HLA genotyping were performed in index cases and family members. HFE genotypes of 1,373 African American controls in five regions were tabulated.
Index cases had C282Y/C282Y and C282Y/H63D, respectively; each corresponding Ch6p was likely of Caucasian origin. In controls, frequencies of hemochromatosis-associated genotypes were as follows: C282Y/C282Y, 0.00011; C282Y/H63D, 0.00067; and H63D/H63D, 0.00101.
Penetrance-adjusted estimates indicate that approximately 9 African Americans per 100,000 have a hemochromatosis phenotype and two common HFE mutations. Hemochromatosis-associated genotype frequencies varied 11.7-fold across regions.
两名无血缘关系的非裔美国人具有血色素沉着症的表型和基因型。我们试图确定他们HFE突变的起源，并估计类似病例的频率。
对索引病例及其家庭成员进行HFE和HLA基因分型。将五个地区1373名非裔美国对照的HFE基因型制成表格。
索引病例分别具有C282Y/C282Y和C282Y/H63D；每个相应的Ch6p可能源自白种人。在对照中，血色素沉着症相关基因型的频率如下：C282Y/C282Y为0.00011；C282Y/H63D为0.00067；H63D/H63D为0.00101。
经外显率调整的估计表明，每10万名非裔美国人中约有9人具有血色素沉着症表型和两种常见的HFE突变。血色素沉着症相关基因型频率在各地区之间相差11.7倍。
