Mutation screening and associated study of VANGL1 gene in chinese patients with Neural Tube Defects.[J].Journal of Clinical Pediatric Surgery,,10():94-97.
Mutation screening and associated study of VANGL1 gene in chinese patients with Neural Tube Defects.
- Keywords:
- ; Spinal Dysraphism; Genetic Screening
- Document code:
- A
- Abstract:
- 【Abstract】ObjectiveTo investigate the association and mutation of VNAGL1 gene in Chinese patients with neural tube defects(NTDs).Methods100 patients with NTDs and 240 normal subjects as control group were investigated in this study．The VANGL1 gene were amplified by polymerase chain reaction(PCR)，the PCR products were purified and then sequenced. The association of the SNPs with the NTD were analyzed.Results Two missense mutation(c.640C>T and c.1127A>G) were identified both in NTDs and Controls. But there were no significant differences between them（P>0.05）. Four new single nucleotide polymorphisms (SNPs) were -5046C/G、-5048A/C、54740A/G and 54932A/G. Accorrding to analysis ,there were no significant differences of the -5046C/G、-5048A/C between the NTDs patients and controls,and there were much significant differences of the 54740A/G and 54932A/G between the NTDs patients and controls（P<005）.ConclusionThere was no mutation of gene VANGL1 with NTDs in Chinese population..But there were may be great relationship of 54740A/G and 54932A/G with NTDs.
References:
1Kibar Z,Torban E,McDearmid JR,et al.Mutations in Vangl1 associated with neuraltube defects\[J\].N Engl J Med,2007,356(14):1432—1437.
2Kibar Z,Bosoi CM,Kooistra M,et al.Novel Mutations in Vangl1 in Neural Tube Defects\[J\]. Hum Mutat,2009,30(7):E706—715.
3Taylor J,Abramova N,Charlton J,et al.Van Gogh: a new Drosophila tissue polarity gene\[J\].Genetics,1998,150(1):199—210.
4Wolff T, Rubin GM.Strabismus,a novel gene that regulates tissue polarity and cell fate decisions in Drosophila\[J\].Development,1998,125(6): 1149—1159.
5Torban E,Wang HJ,Groulx N,et al.Independent mutations in mouse Vangl2 that cause neural tube defects in looptail mice impair interaction with members of the Dishevelled family\[J\].J Biol Chem,2004,279(50):52703—52713.
6Katoh Y,Katoh M.Comparative genomics on Vangll and Vangl2 genes\[J\].Int J Oncol,2005,26(5):1435—1440.
7van der Linden IJ,Afman LA, Heil SG,et al. Genetic variation in genes of folate metabolism and neural-tube defect risk\[J\].Proc Nutr Soc ,2006,65(2):204—215.
8刘坚,戚静,祝婕,等.维甲酸对胎鼠Vangl 1及Vangl 2基因表达的影响\[J\].中国优生与遗传杂志.2008,16(3):23—26.
9Jessen JR, SolnicaKrezel L.Identification and developmental expression pattern of van goghlike 1,a second zebrafish strabismus homologue\[J\].Gene Expr Patterns, 2004,4(3):339—344.
10Reynolds A,McDearmid JR,Lachance S,et al.Vangl1 rare variants associated with neural tube defects affect convergent extension in zebrafish\[J\].Mech Dev, 2010, 127(7-8):385—392.