Relationship between apolipoprotein E, D10S1225 polymorphisms and late-onset Alzheimer's disease / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>There were some papers published in the Jonrnal of Science, December 2000 suggesting that one or more important susceptibility genes for late onset Alzheimer's disease (LOAD) were located on the long arm of chromosome 10. Linkage analysis showed maximum lod score close to D10S1225 loci, which indicated the loci might contribute to the etiology of Alzheimer's disease (AD).</p><p><b>METHODS</b>Fifty-nine LOAD patients and 107 controls were recruited. Apolipoprotein E (ApoE) genotypes were determined by reverse dot blotting hybridization assay. The D10S1225 was genotyped by 12% nondenaturing polyacrylamide gels electrophoresis and analyzed by silver staining. Statistical analysis was used to compare genotype and allele distributions between LOAD group and control group for ApoE and D10S1225 polymorphisms.</p><p><b>RESULTS</b>ApoE epsilon 4 was significantly higher in LOAD group in comparison with the control group (chi(2) = 6.530, P = 0.011). Seven different alleles of D10S1225 have been identified. The length of these gene fragments were 178 bp, 181 bp, 184 bp, 187 bp, 190 bp, 193 bp, and 196 bp, respectively. A total of 21 different genotypes were observed. There was no relationship between D10S1225 polymorphism and LOAD (chi(2) = 4.488, P > 0.05). Conclusion This study suggests that ApoE epsilon 4 is a risk factor for LOAD, however, the results indicated that there is not any possible linkage for disequilibria with a nearby AD risk gene near D10S1225.</p>

Six novel mutations in PAH gene detected by sequencing / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore new mutation in phenylalanine hydroxylase (PAH) gene.</p><p><b>METHODS</b>The PAH genes from 40 phenylketonuria (PKU) patients and 30 normal controls were screened by PCR-single strand conformation polymorphism (SSCP) and further sequencing.</p><p><b>RESULTS</b>Eleven mutations and 3 polymorphisms in PAH gene were found. No abnormalities in the PAH gene from 30 controls were detected.</p><p><b>CONCLUSION</b>M276K, M276R, 280insT, IVS10nt+32T-->A, IVS4nt+47C-->T were demonstrated as novel mutations in comparison with the PAH mutation database. One mission mutation (H290R) was first documented in Chinese PKU gene.</p>

Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the molecular basis of late onset ornithine transcarbamylase (OTC) deficiency in a Chinese family of Han nationality and the exon sequences of OTC gene of this patient.</p><p><b>METHODS</b>Polymerase chain reaction-single strand conformation polymorphism and direct sequencing were used to identify the mutation type.</p><p><b>RESULTS</b>A missense mutation E122G in the conserved residue of exon 4 was identified which is unreported before.</p><p><b>CONCLUSION</b>The E122G mutation in human OTC gene may cause late onset OTC deficiency.</p>