𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genome-scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey

✍ Scribed by Mary L. Marazita; L. Leigh Field; Gökhan Tunçbilek; Margaret E. Cooper; Toby Goldstein; K. Gürler Gürsu

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
135 KB
Volume
126A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

✦ Synopsis

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 assess whether any of those loci have positive results in Turkish Caucasian CL/P families, and to perform a 10 cM genome scan to identify other regions potentially containing cleft susceptibility loci. Eighteen affected individuals with consanguineous parents were identified as part of our on‐going studies of orofacial clefts in Ankara, Turkey. Genotyped were 383 genome‐scan markers, and 70 additional markers, including markers in six candidate loci or regions on chromosomes 2, 4, 6, 14, 17, and 19 (TGFA, D4S175, F13A1, TGFB3, D17S250, and APOC2) that have been implicated in other studies of families with orofacial clefting. LOD scores (two point and multiple point) and family‐based association statistics (TDT) were calculated between each of the markers and CL/P. For the LOD score calculations, an autosomal recessive model was assumed for the inheritance of CL/P. Of the six candidate markers, significant TDT results were obtained with TGFA (P = 0.05). The most statistically significant multipoint results from the linkage genome scan were between putative genes controlling risk of CL/P and regions on chromosomes 4, 10, 12, and 15 (maximum multipoint HLOD's of 1.25, 1.30, 2.73, and 1.28 respectively). These results demonstrate the power of small numbers of families with inbred probands to detect linkage and association. © 2003 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

Genome scan for loci involved in nonsynd
Genome scan for loci involved in nonsyndromic cleft lip with or without cleft palate in families from West Bengal, India
✍ Field, L. Leigh ;Ray, Ajit K. ;Cooper, Margaret E. ;Goldstein, Toby ;Shaw, Diana 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 106 KB 👁 2 views

## 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),

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

Lack of linkage disequilibrium between t
Lack of linkage disequilibrium between transforming growth factor alpha Taq I polymorphism and cleft lip with or without cleft palate in families from Northeastern Italy
✍ Scapoli, Luca; Pezzetti, Furio; Carinci, Francesco; Martinelli, Marcella; Carinc 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views

Cleft lip with or without cleft palate (CL +/- P) is the most frequent craniofacial malformation in different human populations and its cause is largely unknown. Several studies based on population associations have suggested that an allele mapping in the transforming growth factor alpha locus could