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Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.

Abstract：

:Usher syndrome (USH) refers to genetically and clinically heterogeneous autosomal recessive disorders with combined visual and hearing loss. Type I (USH1) is characterized by a congenital, severe to profound hearing loss and absent vestibular function; in type II (USH2) the hearing loss is congenital and moderate to severe, and the vestibular function is normal. Progressive pigmentary retinopathy (PPR) is present in both types. A third type (USH3) differing from USH2 by the progressive nature of its hearing loss has been suggested. USH3 has previously been estimated to comprise 2% of all USH. However, based on clinical criteria, in Finland 42% of USH patients have progressive hearing loss suggesting enrichment of an USH3 gene. We excluded the four previously mapped USH regions as the site of the USH3 disease locus. Systematic search for USH3 by genetic linkage analyses in 10 multiple affected families using polymorphic microsatellite markers revealed significant linkage with markers mapping to chromosome 3q. Pairwise lod scores at zero recombination distance were 7.87 for D3S1308, and 11.29 for D3S1299, incorporating the observed linkage disequilibrium. Conventional multipoint linkage analysis gave a maximum lod score of 9.88 at D3S1299 assigning USH3 to the 5 cM interval between markers D3S1555 and D3S1279 in 3q21-25.(ABSTRACT TRUNCATED AT 250 WORDS)

journal_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

Sankila EM,Pakarinen L,Kääriäinen H,Aittomäki K,Karjalainen S,Sistonen P,de la Chapelle A

doi

10.1093/hmg/4.1.93

subject

Has Abstract

pub_date

1995-01-01 00:00:00

pages

93-8

issue

1

eissn

0964-6906

issn

1460-2083

journal_volume

4

pub_type

杂志文章

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