Genome-wide scan for hypertension linkage to chromosome 12q23.1 - q23.3 in a Chinese family

对中国一家系的 12q23.1 - q23.3 染色体高血压关联进行全基因组扫描

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作者:Yan Dong, Lin Yang, Fang Fang, Jing Zhang, Gengru Jiang, Shijie Xu

Conclusions

A novel locus for essential hypertension was identified on chromosome 12q23.1 - q23.3. This finding implies that the region 12q23.1 to 12q23.3 might encompass a susceptible gene that caused hypertension in this Chinese family.

Methods

A total of 22 individuals from a single family from Shanghai, PR China, were genotyped on more than 400 microsatellite markers with a spacing gap of less than 10 cm for nearly the entire scanned genome.

Results

Linkage analysis suggested that an affected disorder is linked to a locus in the chromosome interval 12q23.1 to 12q23.3; two-point parametric analysis showed a logarithm of odds (LOD) score of 2.97 for the marker D12S346 (12q23.1) and 1.40 for the marker D12S78 (12q23.3). Fine mapping and haplotype analysis subsequently confirmed that eight continuous markers (D12Sac023161, D12S1706, D12S346, D12S1588, D12S1607, D12Sac010202, D12S78, D12Sac084356) had positive LOD with a maximum two-point LOD score of 3.34 for the marker D12S1706 and a maximum multi-point LOD score was 2.4002 for D12Sac010202, their NPL scores were 10.9091 for D12S1706 and 10.9114 for D12Sac010202. Interpretation & conclusions: A novel locus for essential hypertension was identified on chromosome 12q23.1 - q23.3. This finding implies that the region 12q23.1 to 12q23.3 might encompass a susceptible gene that caused hypertension in this Chinese family.

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