ABSTRACT
<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>
Subject(s)
Adolescent , Adult , Child , Female , Humans , Male , Middle Aged , Blotting, Southern , Microsatellite Repeats , Genetics , Myotonic Dystrophy , Genetics , Myotonin-Protein Kinase , Pedigree , Polymerase Chain Reaction , Protein Serine-Threonine Kinases , Genetics , RNA-Binding Proteins , Genetics , Trinucleotide Repeats , GeneticsABSTRACT
<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>
Subject(s)
Adult , Aged , Aged, 80 and over , Humans , Middle Aged , Alleles , Gene Frequency , Genotype , Nerve Tissue Proteins , Genetics , Parkinson Disease , Genetics , Polymorphism, Single Nucleotide , Synucleins , gamma-SynucleinABSTRACT
<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>
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Asian People , Genetics , China , Dopamine beta-Hydroxylase , Genetics , Gene Frequency , Genetic Predisposition to Disease , Parkinson Disease , Genetics , Polymorphism, Genetic , Polymorphism, Restriction Fragment LengthABSTRACT
<p><b>OBJECTIVE</b>To determine the relation between the apolipoprotein E(apoE) promoter -427C/T polymorphism and Alzheimer's disease (AD) in a Chinese Han population in Shanghai.</p><p><b>METHODS</b>The apoE promoter -427C/T polymorphism in 104 AD cases and 110 healthy subjects was detected using polymerase chain reaction method and restriction fragment length polymorphism genotyping technique. The differences in polymorphic distribution between the two groups were tested, and odds ratio was computed.</p><p><b>RESULTS</b>No differences in apoE -427C/T genotypic distribution were observed between AD cases and controls (P>0.05). Even after stratification according to apoE epsilon 4 stratum, there was not any polymorphic distribution difference when epsilon 4 carriers or non epsilon 4 carriers were compared with controls (P>0.05). The association between AD and apoE epsilon 4 appeared in the TT group(OR=3.94,95%, CI:22067038, chi-square=21.48, P<0.05), but not in CT or CC group.</p><p><b>CONCLUSION</b>ApoE -427C/T polymorphism was not a susceptibility factor for AD in this Han population in Shanghai.</p>