The alpha-synuclein gene microsatellite polymorphism and late-onset sporadic Parkinson's disease susceptibility / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the association of the microsatellite polymorphisms in the promoter region of alpha-synuclein gene with the late-onset sporadic Parkinson's disease (PD) susceptibility.</p><p><b>METHODS</b>The microsatellite polymorphism of alpha-synuclein gene was analyzed with amplified fragment length polymorphism (Amp-FLP) and semiautomatic fluorescent labeled genotyping technique. Association analysis was performed in 135 unrelated late-onset sporadic PD patients and 170 age-matched healthy controls.</p><p><b>RESULTS</b>The distribution of the alleles of the dinucleotide repeats variants of alpha-synuclein gene promoter region in PD cases was significantly different from that in the healthy controls. The most frequent allele in PD patients was allele 269 bp, but in controls it was the 271 bp allele. Alleles of <or=267 bp showed positive correlation with PD risk (OR=5.228, 95%CI: 1.248-27.202, chi-square=6.416, P=0.011), while the 273 bp allele was negatively correlated to PD (OR=0.638, 95%CI: 0.440-0.926, chi-square=5.644, P=0.018). Furthermore, no difference of genotype polymorphism distribution was shown between the two groups (chi-square=16.368, df=12, P=0.175). But the genotypes containing <or=267 bp allele may increase the susceptibility to PD (OR=4.594, 95%CI: 0.94-22.49, chi-square=4.224, P=0.04). Heterozygosity was 40% in PD patients, and 50% in controls.</p><p><b>CONCLUSION</b>alpha-synuclein microsatellite polymorphism might be a genetic susceptibility factor for late-onset sporadic PD.</p>

A pedigree with myotonic dystrophy: non-CTG, non-CCTG repeat expansion / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Two genetic loci are associated with the myotonic dystrophy (DM) phenotype: DM1 DMPK on chromosome 19, and DM2 ZNF9 on chromosome 3. The aim of this study was to investigate the molecular genetics of a pedigree with DM.</p><p><b>METHODS</b>In twenty-six individuals from a family with DM, the CTG repeats in DMPK and CCTG repeats in ZNF9were evaluated genetically, using Long Expand trade mark Template polymerase chain reaction (PCR), Southern blotting and genomic scanning.</p><p><b>RESULTS</b>The numbers of CTG and CCTG repeat were all in normal range. There was no significant difference between the CTG repeat size in DMPK gene and that 4 years later from the same individual. The Lod score values with short tandem repeats STR markers chosen in 19q and 3q were all smaller than 1, which suggested that no STR marker was linked with this DM family.</p><p><b>CONCLUSION</b>There might be some other mutant in this DM pedigree. Further study should be done to find the genetic basis of this pedigree.</p>

Dopamine beta hydroxylase gene polymorphism and Parkinson's disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the correlation between the polymorphism of dopamine beta hydroxylase(DBH) gene and the susceptibility of Shanghai Chinese Han population to Parkinson's disease(PD).</p><p><b>METHODS</b>Association study was performed in 144 PD patients and 188 healthy control subjects matched for age, sex and origin. Polymorphism of DBH gene was analyzed with polymerase chain reaction-restriction fragment length polymorphism.</p><p><b>RESULTS</b>The allelic frequency of A2 allele of DBH gene was significantly higher in PD patients than in controls(P<0.01).The risk of suffering from PD increased (OR=1.82) in the individual with A2 allele. And the genotypic frequency of A2/A2 was significantly higher in PD patients(OR=2.11, P<0.01),too. On the other hand, the allelic frequency of A1 allele and the genotypic frequency of A1/A2 genotype of DBH gene in PD patients were significantly lower(A1 alleles: OR=0.54, P<0.01; A1/A2 genotypes: OR=0.45, P<0.01).</p><p><b>CONCLUSION</b>The polymorphism in DBH gene might play an important role in the susceptibility of Shanghai Chinese Han population to PD.</p>

Study on gamma-synuclein gene in patients with idiopathic Parkinson's disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To evaluate the relationship between idiopathic Parkinson's disease (PD) and two polymorphisms (C243G and A377T) of the gamma-synuclein gene in a Chinese Han population of Shanghai area.</p><p><b>METHODS</b>Polymorphic genotyping was performed with PCR-RPLP technique. Association analysis was carried out in 145 unrelated idiopathic PD patients and 184 age-matched healthy controls.</p><p><b>RESULTS</b>The authors failed to detect any distributional difference of the C243G and A377T polymorphisms of the gamma-synuclein gene between PD cases and control subjects, nor did they find any association.</p><p><b>CONCLUSION</b>These data do not support that gamma-synuclein gene C243G and A377T polymorphisms are involved in idiopathic PD onset in the Han population of Shanghai area.</p>

SELECTION FOR URA5 MUTANTS OF CRYPTOCCOCUS NEOFORMANS CAPSULE-DEFICIENT STRAIN CAP59 / 微生物学通报

This study was to improve the way for selecting ura5 mutants of Cryptoccocus neoformans Cap59 capsule-deficient strains.They were induced by Diethyl Sulfate. Ura5 mutants were screened by 5-fluoroorotic acid counter selection method. Using the new method, we obtained two ura5 mutants of Cryptoccocus neoformans Cap59 capsule-deficient strain.A easy method that was used to screen ura5 mutants of Cryptoccocus neoformans has been established.