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目的 :了解MTHFRC6 77T、MSA2 75 6G、MTHFDG195 8A和CBS 84 4ins6 8bp位点在中国北方正常人群中的基因型分布 ,并评价单一或复合位点基因变异与叶酸、维生素B12 、同型半胱氨酸 (Hcy)水平及先天性心胖病(CHD)的关系。方法 :选择辽宁省 192例CHD患者及其父母作为病例组 ,同一地区年龄、性别匹配的 12 4名正常人及其父母作为对照组 ,采用PCR RFLP方法检测其基因型 ,放射免疫法和荧光偏振免疫法测定血清叶酸、维生素B12 和Hcy水平 ,比较两组差异。 结果 :中国北方正常人群中 ,这四个位点的突变等位基因频率分别为MTHFR5 1.18% ,MS 7.5 8% ,MTHFD 2 4 .32 % ,CBS插入频率 2 .36 % ;CBS 84 4ins6 8bp位点杂合型频率病例组明显高于对照组 (子代为 12 .5 7%和 2 .97% ,父亲为 10 .88%和 3.0 9% ,母亲为 11.5 4 %和 1.0 2 % ) ,子代的OR值为 4 .70(95 %CI 1.34～ 2 5 .15 ) ,父亲的OR值为 3.83(95 %CI 1.0 5～ 2 0 .98) ,母亲的OR值为 12 .6 5 (95 %CI 1.92～5 32 .4 7) ,其他三个位点两组差异无统计学意义 ;MTHFR、CBS和MTHFD三个位点联合基因变异的母亲、MTHFR和CBS两个位点联合基因变异的母亲 (OR =8.4 4 ,95 %CI:1.2 3～ 36 2 .2 6 )、MTHFD和CBS两个位点联合基因变异的母亲在病例组中所占的比例明显高于对
OBJECTIVE: To understand the genotype distribution of MTHFRC6 77T, MSA2 75 6G, MTHFDG195 8A and CBS 84 4ins6 8bp loci in normal population of northern China and to evaluate the association of single and multiple loci gene mutations with folic acid, vitamin B12, homocysteine (Hcy) levels and congenital heart disease (CHD). Methods: A total of 192 CHD patients and their parents in Liaoning Province were selected as the case group. A total of 124 age-matched and 12-sex matched normal parents and their parents in the same region were selected as control group. The genotype, radioimmunoassay and fluorescence polarization The serum levels of folic acid, vitamin B12 and Hcy were measured by immunoassay, and the differences between the two groups were compared. Results: The frequencies of the mutant alleles in the four northern Chinese populations were MTHFR5 1.18%, MS 7.5 8%, MTHFD 24.32%, CBS insertion frequency 2.36%, CBS 84 4ins6 8bp The frequency of point heterozygous cases was significantly higher than that of the control group (12.57% and 2.97% of offspring, 10.88% and 3.09% of fathers, 11.54% of mothers and 1.02% of mothers), offspring The odds ratio was 4.70 (95% CI 1.34-2.5.15). The odds ratio for father was 3.83 (95% CI 1.0 5 ~ 2.09) and the mother’s OR was 12.65 (95% CI 1.92-532.47). The other three sites showed no significant difference between the two groups. MTHFR, CBS and MTHFD combined with genetic variation mothers, MTHFR and CBS loci combined with gene mutation mothers (OR = 8.44, 95% CI: 1.2 3 ~ 36 2 .2 6). The proportion of mothers with MTHFD and CBS gene mutation in the case group was significantly higher than that of the matched