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A new locus for a dominant form of multinodular goiter on 3q26.1-q26.3.

Abstract：

:A mass screening program for congenital hypothyroidism has markedly improved prognosis of children with congenital hypothyroidism and also revealed several cases with unknown pathogenesis. We here report two independent Japanese multigeneration families with multinodular goiter (MNG) with euthyroidism and with high TSH. The propositi, 3- and 8-year-old girls in two families, were found during a mass screening. An autosomal dominant pattern of inheritance was suggested in both families. The clinical examinations suggested impaired hormonogenesis but discarded known defects in iodine transport, organification, deficiency of hydrogen peroxide, and thyroid peroxidase. Linkage analysis of the two families including 10 members each using 343 microsatellite markers mapped a single locus independently at D3S1618 (theta = 0) on 3q26.1-q26.3 with a two-point LOD score 3.62 (1.81 for each family) and multipoint LOD score of 3.61 (1.80 for each family). Haplotype inspection delimited an 18-cM interval between D3S1565 and D3S3686.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Takahashi T,Nozaki J,Komatsu M,Wada Y,Utsunomiya M,Inoue K,Takada G,Koizumi A

doi

10.1006/bbrc.2001.4998

subject

Has Abstract

pub_date

2001-06-15 00:00:00

pages

650-4

issue

3

eissn

0006-291X

issn

1090-2104

pii

S0006291X01949988

journal_volume

284

pub_type

杂志文章

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