title: A study of several genetic biochemical markers in Sherpas with description of some variant phenotypes.
abstract: Gene frequencies for 23 genetic biochemical markers have been determined in one sample of Sherpas and two smaller samples, one of Tibetans living in Nepal and one of 'mixed' Nepalese. Sherpas presented a high GPT1 (0.71) and an appreciable incidence of HbE (about 2%). Variant phenotypes for PGM1, PHI, PepB and C were observed.
mesh_terms: D000135:Acid Phosphatase / Q000097:blood; D000410:Alanine Transaminase / Q000097:blood; D002681:China / Q000208:ethnology; D004798:Enzymes / Q000097:blood*; D004912:Erythrocytes / Q000201:enzymology; D004950:Esterases / Q000097:blood; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D009390:Nepal; D010641:Phenotype; D010733:Phosphoglucomutase / Q000097:blood
chemical_list: D004798:Enzymes; D000410:Alanine Transaminase; D004950:Esterases; D000135:Acid Phosphatase; D010733:Phosphoglucomutase