التفاصيل البيبلوغرافية
| العنوان: |
Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome) |
| المؤلفون: |
Butler, Merlin G., Hodes, M.E., Conneally, P.M., Biegel, Angenieta A., Wright, James C. |
| المساهمون: |
Department of Medical and Molecular Genetics, IU School of Medicine |
| المصدر: |
PMC |
| بيانات النشر: |
Wiley |
| سنة النشر: |
1984 |
| المجموعة: |
Indiana University - Purdue University Indianapolis: IUPUI Scholar Works |
| مصطلحات موضوعية: |
Schmidt syndrome, Autosomal dominant, HLA association, Genetic linkage, polyglandular autoimmune syndrome type II |
| الوصف: |
Schmidt syndrome (PGA syndrome type II) is a rare condition characterized by polyglandular failure. It is an autosomal dominant trait with variable expressivity that was inherited over four generations in an Indiana kindred. Association of HLA-B8 has been reported with Schmidt syndrome. Our proband is a 12-year-old boy with Addison disease, insulin dependent diabetes mellitus (IDDM), and vitiligo. Two of his eight sibs had either IDDM (sister) or vitiligo and hyperthyroidism (brother). His mother had hypothyroidism. Seven members of earlier generations apparently were also affected. We obtained peripheral blood for HLA and genetic analysis from 21 relatives in a family with 8 Schmidt syndrome individuals in three generations. HLA studies on 15 affected and unaffected relatives showed only 2 of 7 persons with B8-containing haplotypes. Therefore, no association exists between the B8-containing haplotype and the syndrome. We identified informative marker loci. No evidence for linkage of the Schmidt locus to any of the 14 markers was found and close linkage to esterase D and adenylate kinase and possibly properdin factor B was excluded. |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| العلاقة: |
American Journal of Medical Genetics; Butler, M. G., Hodes, M. E., Conneally, P. M., Biegel, A. A., & Wright, J. C. (1984). Linkage Analysis in a Large Kindred With Autosomal Dominant Transmission of Polyglandular Autoimmune Disease Type II (Schmidt Syndrome). American Journal of Medical Genetics, 18(1), 61–65. http://doi.org/10.1002/ajmg.1320180110Test; https://hdl.handle.net/1805/14231Test |
| الإتاحة: |
https://hdl.handle.net/1805/14231Test |
| حقوق: |
Publisher Policy |
| رقم الانضمام: |
edsbas.E7BC1FD6 |
| قاعدة البيانات: |
BASE |
