1.The explore of mode of delivery and pregnancy outcomes in prolonged pregnancy
Chinese Journal of Postgraduates of Medicine 2013;36(z1):21-22
Objective To investigate the relationship between prolonged pregnancy,mode of delivery and pregnancy outcomes.Methods A retrospective analysis of the January 2009 to November 2012,406 cases of prolonged pregnancy cases.Results Select meconium staining of the vaginal trial production of transit emergency caesarean section and vaginal delivery group,the incidence of neonatal asphyxia significantly higher than the cesarean group (P<0.05).Conclusion The prolonged pregnancy conditional vaginal delivery should be closely monitoring fetal heart rate,timing line CST monitoring patients,cervical score the first basin ratings,observation of amniotic fluid nature and progress of labor,and timely cesarean important treatment prolonged pregnancy safety measures.
2.Mutation analysis of a Uighur family with epidermolytic palmoplantar keratoderma.
Xiaohui TANG ; Xiaojing KANG ; Miao SUN ; Nuer DILI ; Yuhong HE ; Xiujuan WU ; Jianyong LIU ; Weidong WU ; Xiongming PU
Chinese Journal of Medical Genetics 2009;26(6):615-619
OBJECTIVETo map and identify the disease gene for the epidermolytic palmoplantar keratoderma (EPPK) in a Uighur family of China.
METHODSBlood samples were collected and genomic DNA was extracted from 48 members of the Xinjiang Uighur family. Six microsatellite repeat sequences on chromosome region 17q12-q21 and 12q13 were selected based on the two known candidate genes KRT9 and KRT1. Two-point linkage analysis and haplotype analysis were performed. Exons and their flanking intronic sequence of the KRT9 gene were amplified by polymerase chain reaction (PCR) and sequenced.
RESULTSData from the marker D17S1787 suggested linkage and yielded a Lod score of 8.65 at theta=0 by using MLINK software. Genotypes and haplotypes were acquired. The disease gene of the EPPK family is located between markers 17/TG/36620115 and D17S846. Chromosome 12q13 region was excluded with the negative Lod score obtained in marker D12S96 (Lod=-infinity at theta=0). No pathogenic mutation was detected in the KRT9 gene.
CONCLUSIONThe disease gene of the EPPK family is located on chromosome region 17q21.2. The keratin 9 gene might not be the disease gene.
China ; Chromosomes, Human, Pair 17 ; genetics ; Female ; Humans ; Keratin-1 ; genetics ; Keratin-9 ; genetics ; Keratoderma, Palmoplantar, Epidermolytic ; ethnology ; genetics ; Male ; Microsatellite Repeats ; Mutation ; Pedigree