Pei W, Baron H, Müller-Myhsok B
Sino-German Laboratory for Molecular Medicine, Fu Wai Hospital, Cardiovascular Institute, PUMC & CAMS, Beijing 100037, China.
Zhonghua Yi Xue Za Zhi. 2000 Jan;80(1):25-7.
To examine familial combined hyperlipidemia (FCHL) families from nonisolated regions in China and Germany to see if we could corroborate support for a chromosome 1q FCHL locus in more general populations.
We recruited 24 German families with 133 members and 12 Chinese families with a total of 81 members in China. The markers ApoA2, D1S1677, D1S104, and D1S194 were examined by multipoint linkage analysis.
Multipoint linkage analysis allowing for heterogeneity gave a maximum LOD score (HLOD) of 1.97 right over D1S194, estimating the proportion of linked families at 17%. This marker was adjacent to D1S104. The evidence for linkage was roughly the same both in the German (13%, HLOD(D1S194) = 1.08) and Chinese families (proportion of linked families 26%, HLOD(D1S194) = 0.97).
In the light of the relatively small numbers and the heterogeneity our populations represent, we interpret our observations as encouraging support for the recent findings indicating the presence of linkage for FCHL on chromosome 1q21-23.
研究来自中国和德国非隔离地区的家族性混合型高脂血症（FCHL）家庭，以确定在更广泛人群中是否能进一步支持1号染色体上FCHL基因座的存在。
我们招募了24个德国家庭（共133名成员）和12个中国家庭（共81名成员）。通过多点连锁分析检测载脂蛋白A2（ApoA2）、D1S1677、D1S104和D1S194这些标记。
考虑到遗传异质性的多点连锁分析在D1S194位点上得到的最大对数优势分数（HLOD）为1.97，估计连锁家庭的比例为17%。该标记与D1S104相邻。在德国家庭（13%，HLOD（D1S194） = 1.08）和中国家庭（连锁家庭比例26%，HLOD（D1S194） = 0.97）中，连锁证据大致相同。
鉴于我们所研究人群数量相对较少且存在遗传异质性，我们认为我们的观察结果为最近关于1号染色体1q21 - 23区域存在FCHL连锁的研究结果提供了有力支持。
