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Results of a genome‐wide linkage scan for stuttering
Author(s) -
Shugart Yin Yao,
Mundorff Jennifer,
Kilshaw James,
Doheny Kimberly,
Doan Betty,
Wanyee Jacqueline,
Green Eric D.,
Drayna Dennis
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20347
Subject(s) - stuttering , genome scan , genetic linkage , genetics , locus (genetics) , linkage (software) , lod score , biology , population , chromosome , gene mapping , gene , audiology , medicine , microsatellite , allele , environmental health
We performed a linkage study of stuttering using 392 markers distributed across the genome in a series of 68 families identified in the general outbred population of North America and Europe. Standardized diagnosis was performed using recorded samples of both conversation and reading, in which stuttering dysfluencies were scored as percentage of dysfluent words and syllables. Analysis was first performed using non‐parametric methods implemented in GENEHUNTER, where we obtained maximum statistical support for markers of chromosome 18, with a maximum NPL (S all ) of 1.51 at D18S976. The single largest pedigree within our sample (pedigree 0006) alone gave an NPL of 4.72 at D18S976. For fine mapping, we analyzed 18 markers on chromosome 18 across all families using ALLEGRO. Overall NPL (S robdom ) scores >5 were obtained with markers on 18p, and Z lr scores ≥2.5 on 18p and proximal 18q. Furthermore, pedigree 0006 alone gave an NPL (S robdom ) of 5.35. Overall our results suggest chromosome 18 may harbor a predisposing locus for this disorder, and additional genes may exist. Published 2003 Wiley‐Liss, Inc.