Han Chinese

Association of a CYP4A11 polymorphism and hypertension in the Mongolian and Han populations of China

J. Q. Liang, Yan, M. R., Yang, L., Suyila, Q., Cui, H. W., and Su, X. L., Association of a CYP4A11 polymorphism and hypertension in the Mongolian and Han populations of China, vol. 13, pp. 508-517, 2014.

Human cytochrome P450 4A11 (CYP4A11) plays a role in the regulation of blood pressure through the conversion of arachidonic acid into 20-hydroxyeicosatetraenoic acid (20-HETE). We therefore investigated the association between a CYP4A11 polymorphism (rs9333025) with hypertension in the Mongolian and Han ethnic groups. We studied 514 Mongolians in a pastoral area, including 201 hypertension patients and 313 normotensive controls, and 524 Han individuals in an urban area, including 215 hypertension patients and 309 normotensive controls.

A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree

C. Y. Cai, Zhu, H., Shi, W., Su, L., Shi, O., Cai, C. Q., Ling, C., and Li, W. D., A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree, vol. 12, pp. 5673-5679, 2013.

Ocular albinism is an X-linked inherited disease characterized by hypopigmentation of the iris and nystagmus. To identify a new disease-causing mutation of ocular albinism, we collected a Han Chinese pedigree with 7 male congenital nystagmus patients over 3 generations. Slit-lamp photography and optical coherence tomography were performed for the proband. Genomic DNA was extracted from a whole blood sample from the proband using the high-salt method. Polymerase chain reaction (PCR) sequencing was carried out for GPR143 and FRMD7 genes.

Subscribe to Han Chinese