Genetic variation analysis of MLP, TFAP2A, and CSK in patients with neural tube defects

• Published in: Journal of medical genetics 2003-04, Vol.40 (4), p.e43-43
• Main Authors: Klootwijk, R, Hol, F A, Wu, M, Willemen, J J H T, Groenen, P, Hamel, B, Straatman, H, Steegers-Theunissen, R P M, Mariman, E C M, Franke, B
• Format: Article
• Language: English
• Subjects: Confidence intervals; Defects; Deoxyribonucleic acid; DNA; DNA - chemistry; DNA - genetics; DNA Mutational Analysis; DNA, Complementary - chemistry; DNA, Complementary - genetics; DNA-Binding Proteins - genetics; Electronic Letter; Gene Frequency; Genes; Genotype; Humans; Kinases; likelihood ratio test; LRT; Membrane Proteins - genetics; Models, Genetic; Mutation; myoinositol; neural tube defect; Neural Tube Defects - genetics; NTD; PCR; PKC; polymerase chain reaction; Polymorphism, Genetic; Polymorphism, Single-Stranded Conformational; protein kinase C; Protein-Tyrosine Kinases - genetics; Proteins; relative risks; Risk factors; Rodents; SBA; Sequence Deletion; Signal transduction; single nucleotide polymorphism; single strand conformation polymorphism; SNP; Spina bifida; spina bifida aperta; src-Family Kinases; SSCP; Studies; TDT; TFAP2A; Transcription Factor AP-2; Transcription Factors - genetics; transmission disequilibrium test
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.40.4.e43

[...]by a TDT based log linear approach we were not able to show a significant role of the TFAP2A gene in the aetiology of human neural tube defects. First strand cDNA synthesis was performed in a 20 [micro]l volume containing 250 ng total RNA, 100 ng random hexamer primers (Amersham Pharmacia, Freiburg, Germany), 10 mmol/l Tris-HCl (pH 8.0), 50 mmol/l KCl, 5 mmol/l MgCl2, 0.01% (w/v) gelatin, 1 mmol/l dNTPs (Life Technologies, Breda, The Netherlands), 50 U RNAsin (Amersham Pharmacia), and 1 U MMLV reverse transcriptase (Life Technologies).