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乳糜泻的家族研究。

A family study of coeliac disease.

作者信息

David T J, Ajdukiewicz A B

出版信息

J Med Genet. 1975 Mar;12(1):79-82. doi: 10.1136/jmg.12.1.79.

Abstract

Thirteen of 141 cases (9 percent) of overt, biopsy proven coeliac disease had a definitely affected relative. The pattern of inheritance in these families is compatible with an incompletely penetrant autosomal dominant gene. There was a female preponderance in the adults and the sporadic cases, but not in the children or the familial cases. The series included a pair of concordant and probably monozygotic twins. The authors believe that coeliac disease, as defined at present, is a heterogeneous condition.

摘要

141例经活检证实的显性乳糜泻病例中,有13例(9%)有明确患病的亲属。这些家族的遗传模式与一种不完全显性的常染色体显性基因相符。在成人和散发病例中女性占多数,但在儿童和家族性病例中并非如此。该系列病例包括一对同卵双生且可能患同病的双胞胎。作者认为,目前所定义的乳糜泻是一种异质性疾病。

相似文献

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A family study of coeliac disease.乳糜泻的家族研究。
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本文引用的文献

3
CELIAC DISEASE. II. ITS RELATIONSHIP TO WHEAT.
Clin Pediatr (Phila). 1964 Jan;3:5-10. doi: 10.1177/000992286400300103.
4
The inheritance of coeliac disease.乳糜泻的遗传
Ann Hum Genet. 1959 Jul;23:266-78. doi: 10.1111/j.1469-1809.1959.tb01470.x.
7
Inheritance of coeliac disease.乳糜泻的遗传
J Med Genet. 1969 Jun;6(2):129-31. doi: 10.1136/jmg.6.2.129.
10
Genetics of disorders of intestinal digestion and absorption.
Adv Hum Genet. 1970;1:275-336. doi: 10.1007/978-1-4684-0958-1_5.

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