IADR Abstract Archives

Reduced Folate Carrier gene and cleft lip/palate in Karaikal India

Non-syndromic cleft lip and palate (NCLP) is a congenital anomaly with a birth prevalence ranging from 1/500 to 1/1000. According to the Amrita Institute of Medical Sciences in Cochin India, 35 000 children with orofacial cleft are born every year in India. A genetic predisposition and a disturbance of folate metabolism have been suggested to participate in the etiology of NCLP.

Objectives: Our present study evaluated a role of the RFC1 (Reduced Folate Carrier 1) gene which is involved in the transport of folate across the cell surface membrane in the etiology of NCLP. We studied the polymorphism at nucleotide 80 (A80G).

Methods: Case-control design was used. The sample of cases consisted of individuals affected with NCLP (n=89) and the control sample comprised unaffected individuals (n=62) from Karaikal, India. Diagnosis of cleft was determined by physical examination. DNA was isolated from dry blood spots on filter paper. RFC1 A80G genotypes were established using PCR amplification and SNCP detection on polyacrylamide gels after electrophoresis.

Results: A higher proportion of individuals with GG genotype was found among cases compared to controls (47.19% vs 37.1%). Wild allele (AA) homozygotes were more often seen among controls than among cases (17.74% vs 11.24%). The A allele frequency was 0.320 for cases and 0.403 for controls, while the G allele frequency was 0.680 for cases and 0.597 for controls. The differences of genotype distributions and allele frequencies between cases and controls were not statistically significant.

Conclusion: Results of this pilot study suggest that the substitution of G for A at the nucleotide 80 of the RFC1 gene may have contributed to the etiology of NCLP in Karaikal. However, the sample was not large enough for a final conclusion. Therefore, genotyping of additional cases and controls is in progress.

The fieldwork was supported by Rotaplast Intl., Inc.


IADR General Session
2006 IADR General Session (Brisbane, Australia)
Brisbane, Australia
2006
492
Craniofacial Biology
  • Pawar, Tripti  ( University of the Pacific School of Dentistry, San Francisco, CA, USA )
  • Tolar, Miroslav  ( University of California - San Francisco, San Francisco, CA, USA )
  • Al-jabeiti, Alia  ( University of the Pacific School of Dentistry, San Francisco, CA, USA )
  • Obara, Midori  ( University of the Pacific School of Dentistry, San Francisco, CA, USA )
  • Salahuddin, Reem  ( University of the Pacific School of Dentistry, San Francisco, CA, USA )
  • Tolarova, Marie M.  ( University of the Pacific School of Dentistry, San Francisco, CA, USA )
    • Oral Session
    Genetics/ Tissue Engineering
    06/28/2006