AUTOIMMUNE POLYENDOCRINOPATHY CANDIDOSIS ECTODERMAL DYSTROPHY (APECED) - AUTOSOMAL RECESSIVE INHERITANCE
AUTOIMMUNE POLYENDOCRINOPATHY CANDIDOSIS ECTODERMAL DYSTROPHY (APECED) - AUTOSOMAL RECESSIVE INHERITANCE
复制标题
DOI：
10.1111/j.1399-0004.1985.tb02037.x
复制
发表时间：
1985-01-01
影响因子：
3.5
通讯作者：
AHONEN, P
中科院分区：
文献类型：
--
作者：
AHONEN, P
对 58 名 APECED（自身免疫性多内分泌腺病 - 念珠菌病 - 外胚层营养不良）患者和 42 个家庭进行了遗传分析。 APECED 的特点是甲状旁腺功能减退、原发性肾上腺皮质功能衰竭和慢性皮肤粘膜念珠菌病，但其所有组成部分都不是恒定的。其他内分泌缺陷以及牙釉质和指甲营养不良也可能发生。受影响的兄弟姐妹比例为 0.147 .+-。当针对截断单个确定进行校正时，为 0.034 (SD)，0.246 .+-。当针对先验截断完整确定进行校正时为 0.019，并且为 0.240 .+-。当针对后截断完全确定进行校正时为 0.047。男女比例为1.04。结果与常染色体隐性遗传相一致。没有发现该基因的杂合表现。该基因在芬德兰中部和东部的孤立亚群中富集。 APECED 是芬兰疾病遗产的一部分。
A genetic analysis as made of 58 patients and the 42 families with APECED (autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy). APECED is characterized by hypoparathyroidism, primary adrenocortical failure and chronic mucocutaneous candiosis, but none of its components is constant. Other endocrine deficiencies can occur as well and also dystrophy of dental enamel and nails. The proportion of affected siblings was 0.147 .+-. 0.034 (SD) when corrected for truncate single ascertainment, 0.246 .+-. 0.019 when corrected for a priori truncate complete ascertainment and 0.240 .+-. 0.047 when corrected for a posterior truncate complete ascertainment. The male/female ratio was 1.04. The results are compatible with autosomal recessive transmission. No heterozygous manifestations of the gene were found. The gene is enriched in isolated subpopulations in central and eastern Findland. APECED is part of the Finnish heritage of disease.