Isolation and characterization of the human D-glyceric acidemia related glycerate kinase gene GLYCTK1 and its alternatively splicing variant GLYCTK2.

Deficiency of human glycerate kinase leads to D-glycerate acidemia/D-glyceric aciduria. Through PCR cloning assisted by in silico approach, we isolated the human glycerate kinase genes--Glycerate Kinase 1 (GLYCTK1) and its alternatively splicing variant--Glycerate Kinase 2 (GLYCTK2), which might be associated with D-glycerate acidemia/D-glyceric aciduria. The locus of GLYCTK gene is mapped to 3p21.

[Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family].

Objective: To clarify the patients' pathogenic mechanism in an achondroplasia family not according with the genetic law of autosomal dominant inheritance disease at gene level.

Methods: Genomic DNA from peripheral blood of all members in this family was used for amplification of the exon 10 of fibroblast growth factor receptor 3(FGFR3) gene by PCR; mutation was detected by DNA sequencing and identified by restriction endonuclease MaeIII.

Results: A new mutation of A to T at nucleotide 1180 was found in patients but not in unaffected members.