Studies on Human Leucocyte Antigens in the Alimentary Tract Anomalies.

人类白细胞抗原（HLA）与先天性肾上腺皮质增生有关。本文应用HLA分型技术对消化道畸形如先天性肛门闭锁、胆道闭锁、胆总管扩张、先天性巨结肠、幽门狭窄、旋转不良、食管闭锁、肠闭锁等进行了研究，结果如下：1）在8个遗传性肛门闭锁家系中，除1个家系外，其余家系成员均具有共同的单倍型。2）在35例散发性肛门闭锁病例中，A2和CW 3的频率显著高于对照组（p<0.025）/3）3个遗传性胆道闭锁和/或胆总管扩张的家系中，所有患病成员均具有共同的单倍型先天性巨结肠症中，除一个家系中有两个子代受影响外，其余家系均未发现HLA相关性; 6）先天性巨结肠症中，A24基因频率明显高于正常对照组先天性幽门狭窄组HLA阳性率为81.2%，对照组为58.7%，但差异无统计学意义。HLA与这些疾病的相关性表明，这些疾病的易感基因与HLA基因复合体有密切的连锁关系。对其他消化道畸形的诊断尚需进一步研究。

Human leucocyte antigens (HLA) are known to be associated with cogenital adrenal hyperplasia. HLA type was applied to the study of alimentary tract anomalies, such as imperforate anus, biliary atresia, choledochal dilatation, Hirschsprung's disease, pyloric stenosis, malrotation, esophageal atresia, and intestinal atresia.The results were as followings :1) In 8 families with bereditary imperforate anus, all affected members had a common haplotype except a family.2) In 35 sporadic cases of anal atresia, A2 and CW3 were significantly more frequent than in controls (p<0.025)/3) In 3 families with heredity of biliary atresia and/or choledochal dilatation all affected members had a common haplotype.4) In sporadic cases of anal atresia (23 cases) and choledochal dilatation (7 cases), frequencies of CW3 was higher than in controls.5) HLA association was not observed in Hirschsprung's disease, except a family, in which two silbings were affected.6) the frequency of A24 (81.2%, control 58.7%) was high in congenital pyloric stenosis, but without statistical difference.HLA were associated with anal atresia and biliary anomalies. The HLA association with these diseases suggested the close linkage of the sisease susceptibility genes with HLA gene complex. Further studies are needed to get conclutions in other alimentary tract anomalies.