scholarly journals The human caspase-activated DNase gene (hCAD): genomic structure, exonic single-nucleotide polymorphisms, and a highly polymorphic dinucleotide repeat at the hCAD locus

1999 ◽  
Vol 44 (6) ◽  
pp. 408-411 ◽  
Author(s):  
N. Sugimoto ◽  
Y. Fukuda ◽  
F. Saito-Ohara ◽  
R. Kamiyama ◽  
A. Nakagawara ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genomic Structure ◽  
Dinucleotide Repeat ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Polymorphic Dinucleotide Repeat ◽  
Caspase Activated Dnase ◽  
Polymorphic Dinucleotide ◽  
Human Caspase

Association of the GABRB3 Gene with Nonsyndromic Oral Clefts

2008 ◽  
Vol 45 (3) ◽  
pp. 261-266 ◽  
Author(s):  
Hiroki Inoue ◽  
Shuji Kayano ◽  
Yoko Aoki ◽  
Shigeo Kure ◽  
Atsushi Yamada ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Case Control ◽  
Dinucleotide Repeat ◽  
Aminobutyric Acid ◽  
P Value ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Oral Clefts

Objective: Nonsyndromic oral clefts are common craniofacial anomalies classified into two subgroups: cleft lip with or without cleft palate and isolated cleft palate. Nonsyndromic oral clefts are multifactorial diseases, with both genetic and environmental factors involved in their pathogenesis. The inhibitory neurotransmitter, γ-aminobutyric acid plays a role in normal embryonic, and particularly facial, development and γ-aminobutyric acid receptor type A β-3 subunit (GABRB3) knockout mice have been shown to have cleft palate. The GABRB3 gene is therefore a strong candidate gene for nonsyndromic oral clefts. We investigated here whether genetic variations of the GABRB3 gene affect the risk for nonsyndromic oral clefts. Method: In this case-control study, a total of 178 Japanese patients with cleft lip with or without cleft palate and 374 unrelated controls were recruited and were genotyped for six single nucleotide polymorphisms and a dinucleotide repeat marker of the GABRB3 gene. Results: None of the single nucleotide polymorphisms showed complete linkage disequilibrium with other single nucleotide polymorphisms. In a case-control association study with the six-locus haplotype of the gene, TGTGCT haplotype frequency in patients with cleft lip with or without cleft palate was significantly higher than in the controls (corrected p value = .029). None of the alleles of the dinucleotide repeat marker showed significant association with cleft lip with or without cleft palate. Conclusions: Our data suggest that the GABRB3 gene is involved in the pathogenesis of cleft lip with or without cleft palate in the Japanese population.

Development of a simple method for the determination of single nucleotide polymorphisms

2010 ◽  
Vol 34 (8) ◽  
pp. S75-S75
Author(s):  
Weifeng Zhu ◽  
Zhuoqi Liu ◽  
Daya Luo ◽  
Xinyao Wu ◽  
Fusheng Wan
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Simple Method ◽  
Single Nucleotide
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