Indian Journal of Human Genetics
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Year : 2013  |  Volume : 19  |  Issue : 1  |  Page : 9-13

Nucleotide sequence analysis of NIPBL gene in Indian Cornelia de Lange syndrome cases

1 Department of Chemistry, University of Pune, Pune, Maharashtra, India
2 Birthright Genetic Clinic, Karve Road, Pune, Maharashtra, India

Correspondence Address:
Suvidya Ranade
Department of Chemistry, University of Pune, Pune, Maharashtra
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Source of Support: Department of Science and Technology, Government of India, New Delhi,, Conflict of Interest: None

PMID: 23901187

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Background: Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder in children. The disorder is caused mainly due to mutations in Nipped-B-like protein. The molecular data for CdLS is available from developed countries, but not available in developing countries like India. In the present study, the hotspot region of NIPBL gene was screened by Polymerase Chain Reaction which includes exon 2, 22, 42, and a biggest exon 10, in six CdLS patients and ten controls. Materials and Methods: The method adopted in present study was amplification of the target exon by using polymerase chain reaction, qualitative confirmation of amplicons by Agarose Gel Electrophoresis and use of amplicons for Conformation Sensitive Gel Electrophoresis to find heteroduplex formation followed by sequencing. Results: We report two polymorphisms in the studied region of gene NIPBL. The polymorphisms are in the region of intron 1 and in exon 10. The polymorphism C/A is present in intron 1 region and polymorphism T/G in exon 10. Conclusion: The intronic region polymorphism may have a role in intron splicing whereas the polymorphism in exon 10 results in amino acid change (Val to Gly). These polymorphisms are disease associated as these are found in CdLS patients only and not in controls.

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