中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2005年
3期
258-260
,共3页
董景涛%张思仲%马用信%杨开选%黄明孔%孙岩%何国平%李亚%张炜%彭艳
董景濤%張思仲%馬用信%楊開選%黃明孔%孫巖%何國平%李亞%張煒%彭豔
동경도%장사중%마용신%양개선%황명공%손암%하국평%리아%장위%팽염
ZNF230基因%无精症%高效液相色谱%等位基因频率
ZNF230基因%無精癥%高效液相色譜%等位基因頻率
ZNF230기인%무정증%고효액상색보%등위기인빈솔
ZNF230 gene%azoospermia%high performance liquid chromatography%allele frequency
目的探讨 ZNF230基因与无精症的关系.方法应用变性高效液相色谱(denaturing high performance liquid chromatography,DHPLC) 对99例无精症患者与115名健康对照者基因组DNA中 ZNF230基因全部6个外显子进行突变筛查. 结果检测到 ZNF230基因第6外显子A316G碱基转换;无精症组与健康对照组之间等位基因频率和基因型频率均差异存在统计学意义(分别为P<0.01和P<0.05);无精症组内GG和GA基因型亚组血清卵泡刺激素水平明显高于AA基因型亚组(P<0.05). 结论 ZNF230基因不但可能和无精症相关,而且可能与血清FSH水平有一定相关性.
目的探討 ZNF230基因與無精癥的關繫.方法應用變性高效液相色譜(denaturing high performance liquid chromatography,DHPLC) 對99例無精癥患者與115名健康對照者基因組DNA中 ZNF230基因全部6箇外顯子進行突變篩查. 結果檢測到 ZNF230基因第6外顯子A316G堿基轉換;無精癥組與健康對照組之間等位基因頻率和基因型頻率均差異存在統計學意義(分彆為P<0.01和P<0.05);無精癥組內GG和GA基因型亞組血清卵泡刺激素水平明顯高于AA基因型亞組(P<0.05). 結論 ZNF230基因不但可能和無精癥相關,而且可能與血清FSH水平有一定相關性.
목적탐토 ZNF230기인여무정증적관계.방법응용변성고효액상색보(denaturing high performance liquid chromatography,DHPLC) 대99례무정증환자여115명건강대조자기인조DNA중 ZNF230기인전부6개외현자진행돌변사사. 결과검측도 ZNF230기인제6외현자A316G감기전환;무정증조여건강대조조지간등위기인빈솔화기인형빈솔균차이존재통계학의의(분별위P<0.01화P<0.05);무정증조내GG화GA기인형아조혈청란포자격소수평명현고우AA기인형아조(P<0.05). 결론 ZNF230기인불단가능화무정증상관,이차가능여혈청FSH수평유일정상관성.
Objective To investigate the possible association between ZNF230 gene and azoospermia. Methods Screening for mutation of all 6 exons of ZNF230 gene was performed by denaturing high performance liquid chromatography(DHPLC) in 99 patients with azoospermia and in 115 healthy men as controls. Results An A→G transition at nucleotide 316 in exon 6 was identified. There were significant diffenences in the distribution profiles of both allele and genotype frequencies between patient group and control group (P<0.01 and P<0.05,respectively).In addition,there was a statistically significant difference in the serum follicle stimulating hormone (FSH )level between the patients with GG/GA genotype and those with AA genotype (P<0.05). Conclusion ZNF230 gene may be associated with azoospermia,and the A316G mutation may be correlated with the serum FSH level.
