Mapping a dominant form of multinodular goiter to chromosome Xp22

被引：40

作者：

Capon, F

Tacconelli, A

Giardina, E

Sciacchitano, S

Bruno, R

Tassi, V

Trischitta, V

Filetti, S

Dallapiccola, B

Noveili, G

机构：

[1] Univ Roma Tor Vergata, Dept Biopathol, Rome, Italy

[2] Univ Rome La Sapienza, Dept Expt Med & Pathol, Rome, Italy

[3] Hosp Tinchi Matera, San Giovanni Rotondo, Foggia, Italy

[4] Casa Sollievo Sofferenza, Ist Ricovero & Cura Caraterre Sci, Endocrinol Unit, San Giovanni Rotondo, Foggia, Italy

[5] Univ Catanzaro, Dept Expt Med, Rome, Italy

[6] Casa Sollievo Sofferenza, Mendel Inst, Rome, Italy

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 67卷 / 04期

关键词：

D O I：

10.1086/303095

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Multinodular goiter (MNG) is a common disorder characterized by a nodular enlargement of the thyroid gland and occurring with a female:male ratio of 5:1. This article reports the analysis of an Italian three-generation pedigree MNG, including 10 affected females and 2 affected males. After linkage to candidate regions previously implicated in various forms of goiter was excluded, a novel MNG locus was searched. Because no male-to-male transmission was present in the study pedigree, an X-linked autosomal dominant pattern of inheritance was hypothesized. Therefore, 18 markers spaced at 10-cM intervals on the ii chromosome were examined. A significant LOD score was observed in the Xp22 region, where marker DXS1226 generated a maximum LOD score of 4.73 at a recombination fraction of 0. Analysis of six flanking microsatellites confirmed these data, and haplotype inspection delimited a 9.6-cM interval lying between DXS1052 and DXS8033.

引用

页码：1004 / 1007

页数：4

共 18 条

[1] IDENTIFICATION OF A MUTATION IN THE CODING SEQUENCE OF THE HUMAN THYROID PEROXIDASE GENE CAUSING CONGENITAL GOITER [J].