Studies on Human Leucocyte Antigens in the Alimentary Tract Anomalies.

人类白细胞抗原（HLA）已知与生殖器官肾上腺增生有关。应用HLA分型研究消化道异常，如肛门闭锁、胆道闭锁、胆道扩张、Hirschsprung病、幽门狭窄、旋转不良、食管闭锁、肠闭锁等。结果表明：1)在8个家族中，除1个家族外，所有家族成员均有一个共同的单倍型。2)在35例散发性肛门闭锁中，A2和CW3的发生率显著高于对照组（p<0.025）； 3)在3个有胆道闭锁和/或胆道扩张遗传的家族中，所有成员均有一个共同的单倍型。4)散发性肛闭锁（23例）和胆总管扩张（7例）中，CW3发生率高于对照组。5)在先天性巨结肠病中未观察到HLA相关性，除了一个家族中有两个兄妹受影响。6)先天性幽门狭窄患者A24频率较高（81.2%，对照组58.7%），但差异无统计学意义。HLA与肛门闭锁和胆道异常有关。HLA与这些疾病的相关性提示了疾病易感基因与HLA基因复合物的密切联系。其他消化道异常的结论有待进一步研究。

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.