Prenatal diagnosis strategy of hemophilia A with different clinical backgrounds / 中华检验医学杂志

Objective To prenatally diagnose HA fetus with different clinical backgrounds. Methods Genetic tests were performed on 15 gravidas subjected for prenatal diagnosis of HA and different methods were employed for diagnosis according to the gestational weeks and clinical data. Amniotic fluid were taken from pregnant women within 23 gestational weeks for direct genotyping and indirect linkage analysis, since these women had probands with clear-cut mutations. Cordocentesis was performed for linkage analysis in pregnant women over 23 gestational weeks with probands whose types of mutation were unknown, while the FⅧ activity tests were carried out simultaneously. For the pregnant women over 23 gestational weeks without proband, cordocentesis was operated for measurement of FⅧ activity and karyotyping, but carriers of hemophilia A could not be detected in these cases. The introns 22 and 1 inversion of F8 gene were identified by long distance-polymerase chain reaction. Nucleotide sequencing was employed if the gene inversion could not be found and linkage analysis of 7 polymorphic markers, including DXS1108, F8Civs13, INTRON22,DXS1073,DXS9901, DXS15, DXS8069 and sex site (Amelo) were applied eventually. Identification of maternal blood contamination must be done before the tests. Results Fifteen samples were identified without maternal blood contamination. Five fetuses were diagnosed with hemophilia A. Meanwhile there were three pregnant women whose cord blood FⅧ activities were less than 1%. One of them was accompanied by trisomy 21; another had inversion mutation in introns 22 of F8 gene; the remaining one was identified with missense mutation in exon 23 (p. Arg2182Cys) of F8 gene. Conclusions Diverse methods should be applied in prenatal diagnosis of hemophilia A with different clinical backgrounds, for the sake of birth defects prevention.

Analysis of four cases of hereditable bisaalbuminemia / 中华检验医学杂志

Objective Reporting and analyzing the 4 cases of hereditable bisalbuminemia and its clinical significance and the double-albumin molecules structure.Methods Application ancestry survey,SEBIA electrophoresis system,information searching and collection analysis and result of 18 cases patients in bisalbuminemia among one ancestry of the four that carried hereditable bisalbuminemia.Results The frequency of occurrence of hereditable bisalbuminemia presents as 1/6 050. The result of one ancestry indicates the incidence of the disease among offspring as 46 percents which coincide with the heredity of chromosome dominant gene. The types of the group of 4 patients of bisalbuminemia all belong to As(slow rate in electrophoresis). Biological and N-terminal amino acids analysis exclude the most common As type of genotypic mutation of albumins.Conclusion The occurrence rates and inheritant modes of hereditable bisalbuminemia were studied with the genotypes of bisalbuminemia analysed at the level of the amino acid, which makes rich the information of abnormal albuminemia research and lays the foundation of abnormal albuminemia research at the level of gene.