FPGS gene is a novel causative gene for cleft lip in China
Hu Long1, Quanzeng Liang, Chuanhong Zhong
1West China College of Stomatology, Sichuan University, Chengdu, Sichuan 610041, China. apprehendall@hotmail.com
Abstract:
In China, patients with cleft lip tend to be blood group A. Thus, blood group A gene can be viewed as a marker gene for cleft lip. Based on the principle of linkage analysis, we may find a causative gene for cleft lip near blood group A gene. Among those genes that flank blood group A gene, FPGS gene, only 5.5 cM apart from blood group A gene, is suspected to be a good candidate causative gene for cleft lip. A normal FPGS gene plays an essential role in intracellular folate homeostasis and metabolism, while a variant FPGS gene would lead to folate disturbances or even folate deficiency. Since folate deficiency has been documented to contribute to cleft lip, the resulting folate deficiency induced by a variant FPGS gene would contribute to cleft lip, further strengthening that FPGS gene is a good candidate causative gene for cleft lip. We therefore propose FPGS gene as a novel causative gene for cleft lip.
Related Concept Videos
Pharmacogenomics: Identification of New Drug Targets
Pleiotropy
Single Nucleotide Polymorphisms-SNPs
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...


