Chew C H, Chua K H, Lian L H, Puah S M, Tan S Y
Department of Molecular Medicine, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.
Hum Biol. 2008 Feb;80(1):83-93. doi: 10.3378/1534-6617(2008)80[83:PGOCMA]2.0.CO;2.
Five types of known mutations within the C1q gene [located at C1qA-Gln186 (C >T), C1qB-Gly15 (G >A), C1qB-Arg150 (C >T), C1qC-Gly6 (G >A), and C1qC-Arg41 (C >T)] and two SNPs located at C1qA-Gly70 (G/A) and C1qC-Pro14 (T/C) were screened in a multiracial Malaysian population. One hundred thirty patients with systemic lupus erythematosus (SLE) and 130 matched healthy control subjects were genotyped using PCR-RFLP methods. We found no occurrence of the five types of mutations in either the homozygous or heterozygous form among the 260 samples studied. Statistical analysis also revealed that there were no significant associations observed in the genotype distributions and allele frequencies among the patients with SLE and healthy control subjects with both C1qA-Gly70 (G/A) and C1qC-Pro14 (T/C) SNPs. Overall, C1q deficiency was not proven as a primary causative genetic predisposition factor for SLE in the Malaysian population.
在一个多民族的马来西亚人群中，对C1q基因内已知的5种突变类型[位于C1qA - Gln186（C>T）、C1qB - Gly15（G>A）、C1qB - Arg150（C>T）、C1qC - Gly6（G>A）和C1qC - Arg41（C>T）]以及位于C1qA - Gly70（G/A）和C1qC - Pro14（T/C）的两个单核苷酸多态性（SNP）进行了筛查。使用聚合酶链反应 - 限制性片段长度多态性（PCR - RFLP）方法对130例系统性红斑狼疮（SLE）患者和130例匹配的健康对照者进行基因分型。在研究的260个样本中，未发现这5种突变类型以纯合或杂合形式出现。统计分析还显示，在SLE患者和健康对照者中，C1qA - Gly70（G/A）和C1qC - Pro14（T/C）这两个SNP的基因型分布和等位基因频率之间未观察到显著关联。总体而言，在马来西亚人群中，C1q缺陷未被证实是SLE的主要致病遗传易感性因素。
