Screening of differentially expressed genes from patients with Bardet-Biedl syndrome by gene chip analysis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the differential gene expression profile from patients with Bardet-Biedl syndrome (BBS) by oligonucleotide microarray technique.</p><p><b>METHODS</b>Total RNA of 3 probands with BBS and 4 healthy siblings were isolated from peripheral blood mononuclear cells and reverse-transcribed to cDNAs. Then the cDNAs were subjected for microarray screening with Affymetrix U133 Plus 2.0 array. Genechip scanner was applied to screen the hybridization signals. Genes differentially expressed between the BBS probands and controls were identified by using GCOS1.4 software with the standard of two-fold change (P<0.05) of expression.</p><p><b>RESULTS</b>Fifteen genes were up-regulated 2 or more fold and another 15 genes were down-regulated 2 or more fold in the BBS patients, among them 12 genes were related to signaling pathway and cell cycle by Gene Ontology (GO) analysis.</p><p><b>CONCLUSION</b>The differentially expressed genes identified may correlate with the function or structure of cilia. Their roles in the BBS genesis need to be further studied.</p>

Distribution of apoE polymorphism in Chinese Yunnan Dehong Dai ethnic group / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the distribution of apolipoprotein E (apo E) polymorphism in Chinese Dehong Dai and Kunming Han ethnic groups.</p><p><b>METHODS</b>After the process of extracting genomic DNA from 171 Chinese Dehong Dai and 71 Chinese Kunming Han subjects, the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to amplify the fourth exon of apoE, which contains site 112 and 158 in amino acid sequence, and the apoE polymorphism was detected.</p><p><b>RESULTS</b>The genotyping frequencies of apolipoproteinE epsilon 2/2, epsilon 2/3, epsilon 2/4, epsilon3/3, epsilon3/4, epsilon4/4 in Dehong Dai were 0.006, 0.111, 0.006, 0.789, 0.088 and 0.000 respectively, while the genotyping frequencies of apoE epsilon2/2, epsilon2/3, epsilon2/4, epsilon3/3, epsilon3/4, epsilon4/4 in Kunming Han were 0.000, 0.169, 0.014, 0.718, 0.099, 0.000, respectively (P>0.05). The allelic frequencies of apoE epsilon2, epsilon3 and4 in Dehong Dai were 0.064, 0.889, 0.047 respectively, while the allelic frequencies of apoE epsilon2, epsilon3 and epsilon4 in Kunming Han were 0.092, 0.852, 0.056, respectively (P>0.05).</p><p><b>CONCLUSION</b>The results revealed that either the frequency of genotype or that of allele of apoE gene polymorphism showed statistical difference between the ethnic populations. Compared with the data from other nationalities in China, the frequency of epsilon2 allele in Dehong Dai was significantly lower than that in Zhuang nationality (P<0.01); the frequency of epsilon3 allele in Dehong Dai was significantly higher than that in Chaoxian, Hui, Mongolian,Zhuang nationalities (P<0.05) and Uygur nationality (P<0.01); the frequency of epsilon4 allele in Dehong Dai was significantly lower than that in Olunchun nationality (P<0.05) and Uygur, Owenk nationalities (P<0.01). By comparison with the data from the populations of other races, the distribution of apoE gene polymorphism in Dehong Dai population is similar to that in Japanese population (P>0.05), but different from those in Singapore,European and American populations.</p>