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首页> 外文期刊>Journal of Armed Forces Medical College, Bangladesh >Polyglutamine Diseases after Genetic Analysis in Patients Clinically Diagnosed as Parkinson’s Disease in Bangladesh
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Polyglutamine Diseases after Genetic Analysis in Patients Clinically Diagnosed as Parkinson’s Disease in Bangladesh

机译：孟加拉国临床诊断为帕金森氏病的患者进行基因分析后的多谷氨酰胺疾病

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Introduction: Polyglutamine (polyQ) diseases are Huntington's Disease (HD), Dentatorubropallidoluysian Atrophy (DRPLA), Spinobulbar Muscle Atrophy (SBMA) and the Spinocerebellar Ataxias (SCA) type 1, 2, 3, 6, 7 and 17. These diseases are characterized by an expansion of the CAG-trinucleotide repeat region in the respective disease-related genes. Objective: To find out Polyglutamine (polyQ) diseases by genetic analysis from those patients presenting with Parkinsonism in the Neurology department of Mymensingh Medical College hospital. Materials and Methods: This study was conducted on 7 healthy people and 9 patients of Neurology Department, Mymensingh Medical College Hospital in 2010. 5ml blood was collected from each individual by venipuncture. The complaints of patients along with physical and/or psychological findings, family history including demographic data were recorded with a questionnaire by the neurologists of Hospital. Informed consents from the patients were taken and ethical clearance sought as well. Extraction of genomic DNA from the venous blood using FlexiGene DNA kit (Qiagen, Japan) was performed in Faculty of Veterinary Science, Bangladesh Agricultural University, Mymensingh, Bangladesh. The extracted DNA was stored, accumulated and were sent to Division of Clinical Genetics, Department of Medical Genetics, Osaka University Medical School, Suita, Osaka 565 0871, Japan for PCR and further analysis up to amplification. Results: HD PCR products reveal the DNA product of about 110bp (no. of CAG repeats=21) to 150bp (no. of CAG repeats=34) in both healthy individual and patient repeats=36). SCA2 PCR products reveal the DNA products of about 150 bp (no. of CAG repeats=23) except one patient and it was 175bp (no. of CAG repeats=30). SCA3 PCR product size of both healthy individual and patient DNA was within about 250 (no. of CAG=11) to 300 bp (no. of CAG repeats=28) except one patient which was about 320bp and its CAG repeats was about 34. SCA6 PCR product size of both healthy individual and patient DNA was about 150bp (no. of CAG=16). DRPLA PCR product size of healthy individual and patients DNA was about 142 (no. of CAG repeats=19) to 165bp (no. of CAG repeats=27) except one healthy individual DNA which was about 205 bp and its CAG repeat was 40. Conclusion: Genetic analysis and PCR has been an important tool to visualize the root cause of the diseasesthe CAG repeat can facilitate a definitive clue to address Poly Q diseases.This is so far first time study in Bangladesh on the range of CAG repeats in patients as well as healthy individual.
机译：简介：聚谷氨酰胺（polyQ）疾病是亨廷顿氏病（HD），齿龈假牙髓性萎缩症（DRPLA），脊髓小球肌萎缩症（SBMA）和脊髓小脑共济失调（SCA）类型1、2、3、6、7和17。通过在各个疾病相关基因中扩展CAG-三核苷酸重复区域。目的：从Mymensingh医学院附属医院神经内科的帕金森病患者中进行遗传分析，以发现多谷氨酰胺（polyQ）疾病。材料与方法：该研究于2010年在Mymensingh医学院医院神经科的7名健康人和9名患者中进行。通过静脉穿刺从每个人中采集5ml血液。医院的神经科医生通过问卷调查记录了患者的投诉以及身体和/或心理发现，家族史（包括人口统计数据）。征得患者的知情同意，并寻求道德许可。使用FlexiGene DNA试剂盒（日本，Qiagen）从静脉血中提取基因组DNA是在孟加拉国迈门辛市的孟加拉国农业大学兽医学院进行的。提取的DNA进行存储，积累，并送至日本大阪府吹田市大阪大学医学院医学遗传学系临床遗传学系565 0871进行PCR和进一步分析，直至扩增。结果：HD PCR产物显示健康个体和患者重复序列= 36中大约110bp（CAG重复数= 21）至150bp（CAG重复数= 34）的DNA产物。除一名患者外，SCA2 PCR产物显示约150 bp（CAG重复数= 23）的DNA产物，为175bp（CAG重复数= 30）。健康个体和患者DNA的SCA3 PCR产物大小均在约250（CAG数= 11）至300 bp（CAG重复数= 28）之内，除了一名患者约为320bp并且其CAG重复数约为34。健康个体和患者DNA的SCA6 PCR产物大小约为150bp（CAG数= 16）。健康个体和患者DNA的DRPLA PCR产物大小约为142（CAG重复数= 19）至165bp（CAG重复数= 27），除了一个健康个体DNA约为205 bp且其CAG重复数为40。结论：遗传分析和PCR一直是可视化疾病根本原因的重要工具，CAG重复序列可以为确定Poly Q疾病提供明确的线索。这是迄今为止孟加拉国首次针对患者的CAG重复序列范围进行研究。以及健康的个人。

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