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Sun R.F.,Xi'an Jiaotong University | Zhu Y.S.,Xi'an Jiaotong University | Zhu Y.S.,Key Laboratory of Reproduction and Genetics of Ningxia Hui Autonomous Region | Feng J.L.,Xi'an Jiaotong University | And 6 more authors.
Genetics and Molecular Research | Year: 2011

To look for novel microsatellites in the dystrophin gene for the diagnosis of Duchenne muscular dystrophy, candidate microsatellite sites in the dystrophin gene were analyzed with the SSRHunter software and were also genotyped. Among the 15 candidate microsatellite sites, three novel microsatellite sites in the 60th, 30th, and 2nd intron were found to have a high degree of polymorphism. We submitted these three new loci to the European Molecular Biology Laboratory, under accession Nos. FN547040, FN547041 and FN557526, which were called DXSDMD-in60, DXSDMD-in30 and DXSDMD-in2, respectively. In these three loci, we found 9, 6 and 11 alleles, respectively, in the 205 individuals. In addition, we also detected 20, 19 and 20 genotypes for the three loci in female samples, with a polymorphism information content of more than 0.600. In conclusion, the three microsatellite sites in the intron region of thedystrophin gene have a high degree of polymorphism, and they can be used in population genetics, as well as to provide a theoretical basis for genetic diagnosis and elucidation of molecular mechanisms in Duchenne muscular dystrophy.


Lai J.H.,Xi'an Jiaotong University | Zhu Y.S.,Xi'an Jiaotong University | Zhu Y.S.,Key Laboratory of Reproduction and Genetics of Ningxia Hui Autonomous Region | Huo Z.H.,Key Laboratory of Reproduction and Genetics of Ningxia Hui Autonomous Region | And 5 more authors.
Brain Research | Year: 2010

This study investigated the possible association between three functional polymorphisms in the promoter region of the dopamine D4 receptor (DRD4) gene and schizophrenia, depression, and heroin addiction. Genomic DNA was isolated from the venous blood leukocytes of 322 unrelated patients with schizophrenia, 156 patients with depression, 300 patients with heroin addiction, and 300 healthy unrelated individuals. Polymorphisms in the promoter region of DRD4 (-120 bp duplication, -616C/G, and -521C/T) were genotyped using allele-specific polymerase chain reaction analysis. Genotype and allele were analyzed using SPSS 11.5 software. Results of this analysis indicated that there is a strong finding of -120 bp duplication allele frequencies with schizophrenia (p = 0.008) and weak finding with -1240 L/S and for paranoid schizophrenia (p = 0.022). Interestingly, there is a stronger finding with -521 C/T allele frequencies with heroin dependence (p = 0.0002). These observations strongly suggest that the -120-bp duplication polymorphism of DRD4 is associated with schizophrenia and that the -521 C/T polymorphism is associated with heroin addiction. © 2010 Elsevier B.V.


Kuang W.J.,Xi'an Jiaotong University | Sun R.F.,Xi'an Jiaotong University | Zhu Y.S.,Xi'an Jiaotong University | Zhu Y.S.,Key Laboratory of Reproduction and Genetics of Ningxia Hui Autonomous Region | Li S.B.,Xi'an Jiaotong University
Genetics and Molecular Research | Year: 2011

Reelin is an extracellular signaling protein that plays an important role in the development of the central nervous system. Post-mortem studies have shown lower reelin protein levels in the brains of patients with schizophrenia and bipolar disorder compared with controls. Genetic studies have also shown that mutations in the reelin gene (RELN) increase the risk for schizophrenia and bipolar disorder. We evaluated whether an RELN gene variant, rs362719, which has been associated with increased susceptibility to bipolar disorder, is also associated with susceptibility to schizophrenia. We included 405 Chinese Han schizophrenia patients and 390 controls in our study. The polymorphism was genotyped by PCR and RFLP methods. We found a significant difference in allele frequency distribution (P < 0.05) between schizophrenia patients and controls. The frequency of the A allele was significantly higher in schizophrenia patients than in healthy controls. The effect of SNP rs362719 on allele distribution was significant in female (P < 0.05) but not in male participants (P = 0.473). Besides the gender factor, demographic and clinical characteristics of the rs362719 genotype groups were also analyzed using the chi-square test, but no significant differences were found. We conclude that rs362719 of the RELN gene is associated with susceptibility to schizophrenia in Chinese Han, possibly through a gender-specific mechanism. Further studies will be needed to confirm this genetic risk factor for schizophrenia. © FUNPEC-RP.


Gao F.,Xi'an Jiaotong University | Zhu Y.S.,Xi'an Jiaotong University | Zhu Y.S.,Key Laboratory of Reproduction and Genetics of Ningxia Hui Autonomous Region | Wei S.G.,Xi'an Jiaotong University | And 2 more authors.
Biochemical and Biophysical Research Communications | Year: 2011

The serotoninergic (5-HT) system regulates neuronal activity in broad brain regions, and appears to be particularly important for modulating behavioral and physiological functions such as mood, emotion, sleep and appetite. Central 5-HT deregulation may be involved in many neuropsychological disorders, which include substance abuse and addiction. Previous studies suggest that genetic polymorphisms in some 5-HT receptor genes may relate to heroin dependency. Here we examined potential association between heroin dependence and four single nucleotide polymorphisms (SNPs) of 5-HT receptors (A-1438G and T102C of HTR 2A, and G861C and A1180G of HTR 1B) in a cohort of Han Chinese. Participants included 303 heroin-dependent subjects who were recruited into the Methadone Maintenance Treatment (MMT) Program in the Xi'an Mental Health Center, and 300 healthy controls. The resulting data yielded a significantly higher frequency of the HTR 1B G allele with G861C among the heroin-dependent subjects relative to controls (p=0.001 after Bonferroni correction). Further genotype and clinical phenotype correlation study of the G861C carriers showed that the amount of heroin self-injection was higher in patients with the GG genotype relative to CC and CG genotypes (p<0.01). These findings point to a role for HTR 1B polymorphism in heroin dependence among Han Chinese, and may be informative for future genetic or neurobiological studies on heroin dependence. © 2011 Elsevier Inc.

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