Publications (2)0.86 Total impact
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ABSTRACT: To outline the clinical features of Kennedy disease in Chinese patients. The peripheral blood was collected from the male lower motor neuron disease patients of our inpatients and outpatients from July 2005 to September 2008. Then the genome DNA was extracted and the target gene amplified by polymerase chain reaction and sequenced. The clinical data of positive samples were analyzed and summarized. The number of expanded CAG repeats of 12 patients ranged from 43 to 57. And the number of CAG repeats was inversely correlated with the age of onset (r = -0.756, P < 0.005). The first symptom of all of these patients was extremity weakness. The progression of disease was slow. One of the patients died from pneumonia. And the whole disease course lasted for 14 years. As an adult onset degenerative disease with a slower clinical progression, Kennedy disease has its own characteristics of inheritance pattern and natural course. It can be accurately diagnosed by androgen receptor gene analysis.Zhonghua yi xue za zhi 09/2010; 90(35):2498-500.
Article: Association between DPP6 polymorphism and the risk of sporadic amyotrophic lateral sclerosis in Chinese patients.[show abstract] [hide abstract]
ABSTRACT: Amyotrophic lateral sclerosis (ALS) is a progressive degenerative disease characterized by the loss of motor neurons in the spinal cord, brainstem, and cerebral cortex, which results in muscle weakness, atrophy. Sporadic ALS (SALS) accounts for about 90% of ALS cases, but the etiology is largely unknown. Most of the researchers consider it to be a complex disease. There have been several genome-wide association (GWA) studies reporting several single nucleotide polymorphisms (SNPs) which are susceptible to ALS, but no data of Asians (including Chinese) yet. We investigate whether the polymorphism of rs10260404 in DPP6 gene is associated with SALS in Chinese Han origin to compare the ethnic differences between Chinese Han origin and other populations. The genomic DNA was extracted from the leukocytes of whole blood samples in 58 Chinese Han patients with SALS and 52 healthy controls. The asymmetric PCR was processed in the presence of an unlabeled probe that contained the rs10260404 locus. The product was genotyped on a light scanner using high resolution melting method and some were confirmed with sequencing. The rs10260404 polymorphism was in Hardy-Weinberg equilibrium in patients and controls. The CC genotype and the C allele were similar in patients compared with healthy subjects and not associated with an increased risk of Chinese SALS patients (chi(2) = 0.29, OR = 1.26, 95% CI 0.55 - 2.87, P > 0.05). The rs10260404 is not associated with ALS susceptibility in Chinese people with Han origin which may be due to ethnic differences. More study with large number of cases in Chinese population is really necessary.Chinese medical journal 12/2009; 122(24):2989-92. · 0.86 Impact Factor