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为揭示胆囊结石病与遗传因素的关系，运用聚合酶链反应技术（ＰＣＲ）和基因限制性片段长度多态性分析法（ＲＦＬＰｓ）对１０４例胆囊结石患者和６８例健康人进行了研究。结果显示：胆囊结石组Ｂ１等位基因频率５２．３％，Ｂ１Ｂ１基因型频率２８．８％，大于对照组Ｂ１等位基因频率３４．６％（Ｐ＜０．０５），Ｂ１Ｂ１基因型频率１１．７６％（Ｐ＜０．０５），胆囊结石组Ｂ２等位基因频率４７．７％，Ｂ２Ｂ２基因型频率２４．２％小于对照组Ｂ２等位基因频率６５．４％（Ｐ＜０．０５），Ｂ２Ｂ２基因型频率４２．６％（Ｐ＜０．０５）。胆囊结石组Ｈ１等位基因频率２０％，Ｈ１Ｈ１基因型频率５％，Ｈ２Ｈ２基因型频率６５％，Ｈ２等位基因频率８０％与对照组Ｈ１等位基因频率１７．９％，Ｈ１Ｈ１基因型频率２％，Ｈ２Ｈ２基因型频率６５．９％，Ｈ２等位基因频率８２．１％比较无显著性差异（Ｐ＞０．０５）。提示：Ｂ１等位基因是胆囊结石患者主导基因。Ｂ２等位基因是对照组的主导基因。Ｈ１及Ｈ２等位基因频率在胆囊结石患者及对照组中分布相同，无显著性差异（Ｐ＞０．０５）。
To reveal the relationship between gallstone disease and genetic factors, 104 patients with gallbladder stones and 68 healthy subjects were studied by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLPs). The results showed that B1 allele frequency was 52.3%, B1B1 genotype frequency was 28.8% in cholecystolithiasis group, which was significantly higher than B1 allele frequency in control group 34.6% (P <0.05), B1B1 genotype frequency 11 .76% (P <0.05). The frequency of B2 allele in cholecystolithiasis group was 47.7%, the frequency of B2B2 genotype in 24.2% was less than that in control group (65.4%, P <0.05) ), B2B2 genotype frequency 42.6% (P <0.05). The frequency of H1 allele in HCG group was 20%, the frequency of H1H1 genotype was 5%, the frequency of H2H2 genotype was 65%, the frequency of H2 allele was 80% and that of control H1 gene was 17.9%, and the frequency of H1H1 genotype was 2 %, H2H2 genotype frequency of 65.9%, H2 allele frequency of 82.1% no significant difference (P> 0.05). Tip: B1 allele is the leading gene in patients with gallstone. The B2 allele is the dominant gene in the control group. H1 and H2 allele frequencies in patients with gallstone and control group distribution of the same, no significant difference (P> 0.05).