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A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23

Riley, BM and Schultz, RE and Cooper, ME and Goldstein-McHenry, T and Daack-Hirsch, S and Lee, KT and Dragan, E and Vieira, AE and Lidral, AC and Marazita, ML and Murray, JC (2007) A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23. American Journal of Medical Genetics, Part A, 143 (8). 846 - 852. ISSN 1552-4825

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Abstract

Isolated or nonsyndromic cleft lip and palate (NS CLP) is a complex disorder resulting from multiple genetic and environmental factors. NS CLP has a birth prevalence of 1 per 500 in the Philippines where large families provide an opportunity for gene localization. Genotyping of 392 microsatellite repeat markers at 10 cM intervals over the genome was performed by the Center for Inherited Disease Research (CIDR) on 220 Filipino families with 567 affected and 1,109 unaffected family members genotyped. Among the most statistically significant results from analysis of the genome-wide scan data was a 20 cM region at 8p11-23 in which markers had LODs ≥1.0. This region on 8p11-23 has not been found in any previous genome wide scan nor does it contain any of the candidate genes widely studied in CLP. Fine mapping in 8p11-23 was done in the 220 families plus an additional 51 families, using SNP markers from 10 known genes (FGFR1, NRG1, FZD3, SLC8A1, PPP3CC, EPHX2, BNIP3L, EGR3, PPP2R2A, and NAT1) within the 20 cM region of 8p11-23. Linkage and association analyses of these SNPs yield suggestive results for markers in FGFR1 (recessive multipoint HLOD 1.07) and BAG4 (recessive multipoint HLOD 1.31). © 2007 Wiley-Liss, Inc.

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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Riley, BM
Schultz, RE
Cooper, ME
Goldstein-McHenry, T
Daack-Hirsch, S
Lee, KT
Dragan, E
Vieira, AE
Lidral, AC
Marazita, MLmarazita@pitt.eduMARAZITA
Murray, JC
Date: 15 April 2007
Date Type: Publication
Journal or Publication Title: American Journal of Medical Genetics, Part A
Volume: 143
Number: 8
Page Range: 846 - 852
DOI or Unique Handle: 10.1002/ajmg.a.31673
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 1552-4825
MeSH Headings: Adaptor Proteins, Signal Transducing; Chromosome Mapping; Chromosomes, Human, Pair 8; Cleft Lip--genetics; Cleft Palate--genetics; Family Health; Genetic Linkage; Genomics; Genotype; Humans; Lod Score; Microsatellite Repeats; Philippines--epidemiology; Prevalence; Receptor, Fibroblast Growth Factor, Type 1--genetics
Other ID: NLM NIHMS57339, NLM PMC2570349
PubMed Central ID: PMC2570349
PubMed ID: 17366557
Date Deposited: 20 Sep 2012 21:17
Last Modified: 04 Feb 2019 15:57
URI: http://d-scholarship.pitt.edu/id/eprint/14276

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