Preimplantation Genetic Diagnosis Of Monogenic Disease

Objective:To develop the methods of preimplantation genetic diagnosis for two kinds of monogenic diseases. Methods:1. Rh hemolytic disease of the newborn (1) To detect the genotypes of population in Chongqing by nested PCR (2) To detect the genotypes of single lymphocyte and blastomere by nested PCR and to develop the methods of preimplantation genetic diagnosis of Rh hemolytic disease of the newborn.2. Fragile x syndrome (1) To detect (CGG)n copies of FMR-1 gene of normal people in Chongqing by PCR (2) To detect the copies of (CGG)n in single lymphocyte and blastomere by nested PCR.Results:1. Rh hemolytic disease of the newborn (1) all Rh+ people in Chongqing carry RHD gene and RHCE gene; most Rh" people in Chongqing only carry RHCE gene, some Rh people in Chongqing carry these two genes; (2) the nested PCR in detecting Rh genotype of single lymphocyte shows good sensitivity and specificity , respectively 96.2%(50/52) and 98.1%(51/52); It can detect Rh genotype of 93.3%(28/30) single blastomere.2. Fragile x syndrome (1) the copies of (CGG)n in normal people in Chongqing ranges from 27 to 50, the mean is 34; (2) the nested PCR, which has been developed in this study , can detect the copies of (CGG)n in...