Indian Journal of Human Genetics
Home Current Issue Archives Guidelines Subscriptions e-Alerts Login 
Users online: 36
Print this page  Email this page Small font sizeDefault font sizeIncrease font size
ORIGINAL ARTICLE
Year : 2011  |  Volume : 17  |  Issue : 3  |  Page : 188-193

Tracing disease gene(s) in non-syndromic clefts of orofacial region: HLA haplotypic linkage by analyzing the microsatellite markers: MIB, C1_2_5, C1_4_1, and C1_2_A


1 Department of Oral Medicine and Diagnostic Science, College of Dentistry, King Saud University, Post Box: 60169, Riyadh-11545, Kingdom of Saudi Arabia
2 Department of Human Molecular Genetics, RGCB, Trivandrum 695014, Kerala, India
3 Department of Periodontics and Community Dentistry and Dental Implant and Osseointegration Research Chair, College of Dentistry, King Saud University, Post Box: 60169, Riyadh-11545, Kingdom of Saudi Arabia

Correspondence Address:
R Rajendran
College of Dentistry, King Saud University, P.O. Box: 60169, Riyadh 11545
Kingdom of Saudi Arabia
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.92101

Get Permissions

Background : Cleft lip with or without cleft palate (CL/P) is the most frequent craniofacial malformation seen in man. The etiology of CL/P is complex involving both genetic and epigenetic (environmental) factors, and the genes play an almost deterministic role in the normal development of craniofacial structures. This study was aimed at ascertaining the association of HLA microsatellites in CL/P patients. Materials and Methods : Case DNA was obtained from 76 patients (40M and 36 F, average age 7.8 years, range 1-16 years). Unaffected individuals from the same geographical area without population mixing included as controls (n=154, 76 M and 78 F, average age 8.2 years, range 2-17 years). All DNA samples were purified from peripheral blood by standard techniques. Results :0 Four microsatellites were compared in this case-control study. C1_2_5 locus was the most polymorphic marker with 15 observed alleles while C1_4_1 had the least number of alleles. Three of the four markers viz MIB,C1_4_1 and C1_2_5 showed a significant association of microsatellite alleles with CL/P. Five alleles (MIB_326,332,350; C1_4_1 - 213 and C1_2_5-204) were seen with an increased frequency among the test samples, whereas two alleles (C1-4_1_217, and C1_2_5_196) had an increased frequency among the control samples. One allele (C1-4-1-209) had an increased frequency in patient group but was not observed in the controls. Conclusion : The role of HLA complex in the pathogenesis of CL/P is speculative and has not been established so far. The result of this study shows that a few alleles have an increased frequency of expression in the diseased group which suggests that these alleles may predispose the individuals to clefting. This finding may be beneficial to aid in early diagnosis and plan intervention strategies.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed1497    
    Printed82    
    Emailed0    
    PDF Downloaded30    
    Comments [Add]    

Recommend this journal