Familial aggregation and sibling heritability in Kashin-Beck disease / 南方医科大学学报

<p><b>OBJECTIVE</b>To explore the family aggregation and the role of hereditary factors in the pathogenesis of Kashin-Beck disease (KBD).</p><p><b>METHODS</b>With a stratified sampling method, the general population of 14 villages of Linyou County were studied, from whom 225 KBD probands were selected using systematic sampling at the rate of (1/2). A total of 304 siblings of the probands were ascertained, and in these sibling pairs, the segregation ratio, heritability in different age groups and weighted mean heritability of the siblings were estimated using the methods of Li-Mantel-Grart and Falconer.</p><p><b>RESULTS</b>The KBD distribution scope in the KBD families exceeded the scope of binomial distribution (P<0.001), suggesting obvious family aggregation. The prevalence rate in the siblings of the KBD pedigree was 19.41% (59/304), significantly higher than that in the 14 KBD villages [10.90% (1180/10823), chi2=21.62, P<0.001]. The segregation ratio and heritability in the siblings of the KBD pedigrees were 0.061 and 28.61%, respectively.</p><p><b>CONCLUSION</b>As a polygenetic inheritance disease, KBD exhibits obvious familial aggregation, and genetic susceptibility accounts for (1/4) of the risk factors for KBD.</p>

Genetic polymorphism analysis of 8 short tandem repeat loci on chromosome 2 in Chinese Han population in Shaanxi Province / 南方医科大学学报

<p><b>OBJECTIVE</b>To analyze the genetic polymorphism of 8 short tandem repeat (STR) loci on human chromosome 2 in Chinese Han population in Shaanxi Province.</p><p><b>METHODS</b>Blood samples anticoagulated with EDTA were collected from 176 unrelated Chinese Han individuals in Shaanxi Province. The DNA was extracted for PCR amplification of the relevant fragments, and the amplified products were analyzed using the ABI 3730 Genetic Analyzer.</p><p><b>RESULTS</b>On human chromosome 2, the loci D2S112, D2S162, D2S2330, D2S2216, D2S347, D2S259, D2S319 and D2S168 had 7, 11, 9, 8, 9, 9, 8 and 13 alleles, respectively, with 15, 33, 23, 18, 13, 12, 25 and 33 genotypes for the corresponding alleles. The genotype distribution of all the 8 loci met Hardy-Weinberg equilibrium. The heterozygosities for the 8 STR loci were 0.6985, 0.8274, 0.8042, 0.6816, 0.6541, 0.5213, 0.8432 and 0.8091, with polymorphic information content of 0.6911, 0.8199, 0.7891, 0.6809, 0.6388, 0.5187, 0.8372 and 0.8049, respectively.</p><p><b>CONCLUSION</b>The 8 loci on chromosome 2 have high heterozygosity and polymorphic information content in Chinese Han population, suggesting their value as useful genetic markers.</p>

Expression of nestin and neurogenin 3 in the human fetal pancreas / 中华外科杂志

<p><b>OBJECTIVE</b>To examine the expression of nestin and neurogenin 3 (Ngn3), the markers of pancreatic stem cells, in the human fetal pancreas.</p><p><b>METHODS</b>The human fetal pancreas tissue of 12 and 14 weeks were examined for the expression of nestin and Ngn3 using the techniques of immunofluorescence dye and RT-PCR.</p><p><b>RESULTS</b>Both nestin and Ngn3 expressed widely in 12 and 14 weeks before in human fetal pancreatic tissue. In these positive cells there was no co-expressing insulin or glucagon. There were nestin and Ngn3 co-expressing cells in ducts but not in the islets. The results of RT-PCR also indicated the expression of nestin and Ngn3.</p><p><b>CONCLUSIONS</b>There was no expression of the markers of mature endocrine cells in the nestin and Ngn3 positive cells, and they were the marks of no-differentiation cells in the human fetal pancreatic tissue.</p>