Habibullah C M, Mujahid Ali M, Ishaq M, Prasad R, Pratap B, Saleem Y
Gut. 1984 Dec;25(12):1380-3. doi: 10.1136/gut.25.12.1380.
Although various markers have been used in attempts to elucidate the mode of inheritance of duodenal ulcer, they have not significantly contributed to a clear understanding of the problem. In the present study total serum pepsinogen was used as a genetic marker and its concentrations were estimated in 100 ulcer patients and their family members up to three generations. Eighty three per cent of the ulcer patients had hyperpepsinogenaemia on a familial basis, and it followed an autosomal dominant mode of inheritance. Thus a large majority of ulcer patients have associated hyperpepsinogenaemia which forms a genetic basis of their disease. The remaining 17% ulcer patients did not have associated hyperpepsinogenaemia nor was the ulcer inherited by the family. Based on these observations we wish to suggest that duodenal ulcer associated with hyperpepsinogenaemia may be considered a genetic disease. This type may be termed 'primary duodenal ulcer'. In the remaining patients without hyperpepsinogenaemia or affected relatives the ulcer may be called 'secondary duodenal ulcer'. Thus total serum pepsinogen may be considered a reliable genetic marker in helping to delineate the genetic disorder from the non-genetic, thereby improving the predictive ability in duodenal ulcer.
尽管人们使用了各种标志物来试图阐明十二指肠溃疡的遗传模式，但它们对清晰理解这一问题并没有显著贡献。在本研究中，血清总胃蛋白酶原被用作一种遗传标志物，并对100名溃疡患者及其三代以内的家庭成员的血清总胃蛋白酶原浓度进行了测定。83%的溃疡患者家族性高胃蛋白酶原血症，且呈常染色体显性遗传模式。因此，绝大多数溃疡患者伴有高胃蛋白酶原血症，这构成了他们疾病的遗传基础。其余17%的溃疡患者既没有相关的高胃蛋白酶原血症，其家族中也没有遗传性溃疡。基于这些观察结果，我们认为与高胃蛋白酶原血症相关的十二指肠溃疡可被视为一种遗传性疾病。这种类型可被称为“原发性十二指肠溃疡”。在其余没有高胃蛋白酶原血症或亲属未患病的患者中，溃疡可被称为“继发性十二指肠溃疡”。因此，血清总胃蛋白酶原可被视为一种可靠的遗传标志物，有助于区分遗传性疾病和非遗传性疾病，从而提高十二指肠溃疡的预测能力。
