𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genome scan for loci involved in nonsyndromic cleft lip with or without cleft palate in families from West Bengal, India

✍ Scribed by Field, L. Leigh ;Ray, Ajit K. ;Cooper, Margaret E. ;Goldstein, Toby ;Shaw, Diana F. ;Marazita, Mary L.

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
106 KB
Volume
130A
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

In order to identify genes or regions involved in nonsyndromic cleft lip with or without cleft palate (CL/P) in families from India, we analyzed 38 multiplex families (DNA from 272 individuals, 82 affected with CL/P, 190 unaffected) for 285 genome‐wide markers (average spacing 12.6 cM), including markers in six candidate loci or regions on chromosomes 2, 4, 6, 14, 17, and 19 that have been implicated in other studies of CL/P. LOD scores (two‐point and multipoint), and model‐free association (TDT) and linkage (NPL) statistics, were calculated between each of the markers and a hypothetical CL/P susceptibility locus. The most statistically significant two‐point linkage results were with markers on chromosome 7 (LOD = 1.89 with D7S435, 7p15, 47 cM), chromosome 5 (LOD = 1.76 with D5S407, 5q11, 65 cM), chromosome 15 (LOD = 1.55 with D15S652, 15q26, 90 cM), and chromosome 20 (LOD = 1.46 with STS155130, 20q13, 54 cM). The most significant multipoint linkage result was on chromosome 5q, again near D5S407 (HLOD = 1.40). Regions on chromosomes 1p, 1q, 7q, 12q, 16q, 18q, and Xp also had a LOD or HLOD ≥ 1.0. Of seven candidate markers and regions with previous positive reports in the literature (TGFA, MSX1, D4S175, F13A1, TGFB3, D17S250, and APOC2), none had a significant linkage result, but one (the APOC2 region) had a significant association result and three others (TGFA, MSX1, F13A1) had suggestive results. The results are consistent with the involvement of multiple loci in CL/P expression in this West Bengal population, which concurs with results found in other CL/P study populations. © 2004 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

Genome-scan for loci involved in cleft l
Genome-scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey
✍ Mary L. Marazita; L. Leigh Field; Gökhan Tunçbilek; Margaret E. Cooper; Toby Gol 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 135 KB 👁 1 views

## Abstract Cleft lip with or without cleft palate (CL/P) is a common congenital anomaly, with birth prevalence ranging from 1/500 to 1/1,000. A number of genetic loci have shown positive linkage or association results in European Caucasian populations. The purpose of the current study was to asses

A genome-wide scan for loci predisposing
A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families
✍ Wyszynski, Diego F. ;Albacha-Hejazi, Hasan ;Aldirani, Mohammed ;Hammod, Moustafa 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB 👁 1 views

## Abstract Non‐syndromic cleft lip with/without cleft palate (CL/P) is a common, usually non‐fatal birth defect of complex etiology. Several segregation analyses have demonstrated that genetic factors are important in the pathogenesis of CL/P, most likely through the interaction of several genes o

Analysis of the recurrence patterns for
Analysis of the recurrence patterns for nonsyndromic cleft lip with or without cleft palate in the families of 3,073 Danish probands
✍ Mitchell, Laura E.; Christensen, Kaare 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 2 views

The identification of several putative susceptibility loci for nonsyndromic cleft lip with or without cleft palate (CL f P) has sparked a renewed interest in the genetics of this condition. However, prior to undertaking linkage studies for complex traits such as CL f P it is desirable to have some u