title: Nucleotide sequence analysis of NIPBL gene in Indian Cornelia de Lange syndrome cases.
abstract: 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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Chemistry, University of Pune, Pune, Maharashtra, India.
authors.forename: Shailesh
authors.initials: S
authors.lastname: Bajaj
authors.forename: Suvidya
authors.initials: S
authors.lastname: Ranade
authors.forename: Prakash
authors.initials: P
authors.lastname: Gambhir
keywords: Cornelia de Lange syndrome; Indian Cornelia de Lange syndrome; NIPBL; polymorphisms
references.citation: Mol Cell Biol. 2004 Apr;24(8):3100-11
references.pmid: 15060134
references.citation: Proc Natl Acad Sci U S A. 1993 Nov 1;90(21):10325-9
references.pmid: 8234293
references.citation: Hum Mol Genet. 2009 Feb 1;18(3):418-27
references.pmid: 18996922
references.citation: Genet Couns. 2010;21(2):221-4
references.pmid: 20681223
references.citation: Mol Cell. 2010 Sep 10;39(5):689-99
references.pmid: 20832721
references.citation: Hum Mutat. 2006 Aug;27(8):731-5
references.pmid: 16799922
references.citation: Cell. 2003 Mar 21;112(6):765-77
references.pmid: 12654244
references.citation: Nat Genet. 2004 Jun;36(6):631-5
references.pmid: 15146186
references.citation: PLoS Biol. 2009 May 5;7(5):e1000119
references.pmid: 19468298
references.citation: Am J Med Genet. 1993 Nov 15;47(7):940-6
references.pmid: 8291537
references.citation: Am J Med Genet A. 2008 Jan 1;146A(1):51-9
references.pmid: 18074387
references.citation: Am J Med Genet A. 2006 Jul 15;140(14):1531-41
references.pmid: 16770807
references.citation: Nat Genet. 2004 Jun;36(6):636-41
references.pmid: 15146185
references.citation: Am J Hum Genet. 2004 Oct;75(4):610-23
references.pmid: 15318302
references.citation: Hum Genet. 2004 Jul;115(2):139-48
references.pmid: 15168106