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A new point mutation on exon 2 of parkin gene in Parkinson's disease.

Yanming XU ; Zhuolin LIU ; Yukai WANG ; Enxiang TAO ; Guojun CHEN ; Biao CHEN

Chinese Journal of Medical Genetics.2002;19(5):409-411.

OBJECTIVETo detect the relationship between point mutations on exon 2 of parkin gene and sporadic early-onset Parkinson's disease.

METHODSThe point mutations on exon 2 of parkin gene were detected using polymerase chain reaction(PCR), agarose electrophoresis, single strand conformation polymorphism(SSCP), DNA sequencing and analysis of restrict enzyme in DNA of 60 Parkinson's disease patients with an onset age under 50 and 120 normal controls.

RESULTSOne homozygous mutation (G(237)-->C) on exon 2 was found by sequencing and verified by analysis of restrict enzyme, whereas no mutation was found in normal controls.

CONCLUSIONPoint mutations on exon 2 of parkin gene are likely to be related to sporadic early-onset Parkinson's disease.

Adult ; Aged ; Aged, 80 and over ; Exons ; Female ; Humans ; Ligases ; genetics ; Male ; Middle Aged ; Parkinson Disease ; genetics ; Point Mutation ; Polymorphism, Single-Stranded Conformational ; Sequence Analysis, DNA ; Ubiquitin-Protein Ligases

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The association of interleukin-1 gene polymorphisms with the susceptibility to chronic periodontitis in Uighur.

Liangjun ZHONG ; Yunhui ZHANG ; Jincai ZHANG ; Ailing YANG ; Haiyun HUANG

Chinese Journal of Medical Genetics.2002;19(5):405-408.

OBJECTIVETo investigate the relationship between interleukin-1 (IL-1) gene polymorphisms and the susceptibility of chronic periodontitis in Uighur minority in Xingjiang province of China.

METHODSThe buccal swabs were collected from 41 severe chronic periodontitis (CP) patients, 43 moderate CP patients, 49 mild CP patients and 92 healthy controls. DNA was extracted from these buccal swabs. Genotypes of the IL-1A-889/NcoI and IL-1B+3954/TaqI were determined by sequence specific primers-polymerase chain reaction(SSP-PCR) and PCR-restriction fragment length polymorphism(PCR-RFLP). Then distribution of genotypes for IL-1A-889 and IL-1B+3954 were compared among the different groups.

RESULTS(1) There were no significant differences in the distribution of IL-1A-889 among severe CP patients, moderate CP patients, mild CP patients and healthy controls. (2) Frequencies of allele 2 for IL-1B+3954 were higher in severe CP patients than in healthy controls, and the difference was statistically significant. But there were no such significant differences either between moderate CP patients and healthy controls or between mild CP patients and healthy controls.

CONCLUSIONThese results suggest that IL-1B+3953 allele 2 may be a risk indicator for the susceptibility to severe chronic periodontitis in Uighur minority in Xingjiang of China.

Adult ; Aged ; China ; ethnology ; Chronic Disease ; Electrophoresis, Agar Gel ; methods ; Ethnic Groups ; genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Interleukin-1 ; genetics ; Male ; Middle Aged ; Periodontitis ; genetics ; immunology ; Polymorphism, Genetic

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The association between angiotensin I converting enzyme gene polymorphism and Chinese late onset Alzheimer disease.

Chuanshen WU ; Dongfeng ZHOU ; Zhenquan GUAN ; Jinhu FAN ; Youlin QIAO

Chinese Journal of Medical Genetics.2002;19(5):401-404.

OBJECTIVETo investigate the relationship between angiotensin I converting enzyme gene insertion/deletion polymorphism and Alzheimer disease (AD), as well as the effect of hypertension on the relationship.

METHODSThis case-control study, included 96 AD patients meeting the DSM-IV diagnosis, and 96 subjects as controls coming from the same area and in the same environmental condition. Using the polymerase chain reaction (PCR) amplified the DNA segments, and the PCR products were identified by 2% agarose gel and visualized by ethidium bromide staining.

RESULTSThere was significant difference between AD patients and controls in ACE genotypes and alleles distribution, as well as between AD patients with high blood pressure and controls with high blood pressure. But between normotensive AD patients and normotensive controls, there was no significant difference in ACE genotypes distribution (P>0.05).

CONCLUSIONACE genotypes associated with the risk of AD, but II genotype as risk genetic factor only restricted in subjects with high blood pressure.

Aged ; Alzheimer Disease ; enzymology ; genetics ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; Female ; Humans ; Hypertension ; genetics ; Male ; Peptidyl-Dipeptidase A ; genetics ; Polymorphism, Genetic ; Sex Factors

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Primary study on genetic polymorphism and population difference of locus DYF155S1.

Baojie WANG ; Mei DING ; Hao PANG ; Dong ZHAO

Chinese Journal of Medical Genetics.2002;19(5):397-400.

OBJECTIVETo understand the genetic polymorphism and population difference of locus DYF155S1 on human Y chromosome.

METHODSUsing minisatellite variant repeat mapping-polymerase chain reaction (MVR-PCR), automated fluorescence detection, DNA sequence analysis, the authors studied the locus DYF155S1 of two chimpanzee and 10 human subjects from each of the following 8 groups: Northern China Hans, Southern China Hans, the Zang (Tibetan) nationality, the Uighur nationality, Japanese, Korean, Black African, White African.

RESULTSIn this study, loci DYF155S1 and DYF155S2 have been detected. There is no difference in all of the samples on the locus DYF155S2; each sample contains one type 4 repeat unit, which is the ancestor gene of locus DYF155S1. On locus DYF155S1, each individual has its specific DNA sequence. The arrangement of the repeat units differs greatly in races: arrangement 3134 in the yellow race, arrangement 134 in the white race, and arrangement null3a1a4a4 in the black race were most common. The average number of the type 4 repeat unit in the white race is much higher than that in the yellow race. The authors also found two new types of repeat unit: type 6 and type 7. Type 6 is the result of the T22A substitution on type 1, which was observed in Japanese (3 samples). Type 7 is resulted from the T22A substitution on type 3, which was observed in the Zang nationality (4 samples), Southern China Hans(1 sample), and Korean (1 sample).

CONCLUSIONLocus DYF155S1 has great genetic polymorphism and obvious population difference. Its significance should receive more attention in forensic science and human genetics research.

Animals ; Humans ; Pan troglodytes ; Polymorphism, Genetic ; Y Chromosome

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Association of plasminogen activator inhibitor-1 gene 4G/5G polymorphism and coronary heart disease in Chinese patients.

Lixue GUAN ; Xiangwu JI ; Jingxian WANG ; Aiyuan ZHANG ; Yanzhen ZHANG ; Limei ZHAO

Chinese Journal of Medical Genetics.2002;19(5):393-396.

OBJECTIVETo assess whether the plasminogen activator inhibitor-1 (PAI-1) gene 4G/5G polymorphism is associated with coronary heart disease (CHD) in Chinese patients.

METHODSPAI-1 gene 4G /5G polymorphism was analyzed in normal group (121 individuals) and CHD group (126 cases) by a combination of polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).

RESULTSThe 4G allele and 4G/4G genotype frequencies of PAI-1 gene (0.60 and 0.397) for CHD patients were higher than those (0.48 and 0.190) for healthy controls(chi-square=7.63 P<0.01; chi-square=12.67, P<0.01). The odds ratios(OR) for CHD in subjects with the 5G/5G (and 4G/5G) genotypes were 2.54 (95% CI 1.22-5.27, P<0.05) and 1.28(95% CI 1.45-2.38, P>0.05), respectively.

CONCLUSIONThese results suggest that the PAI-1 4G/4G genotype is associated with an increased risk for CHD in Chinese patients. The subjects with the 4G/4G genotype had a higher prevalence of CHD, compared to those with the 5G/5G PAI-1 genotype.

Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; genetics ; Coronary Disease ; genetics ; Female ; Gene Frequency ; Humans ; Male ; Middle Aged ; Plasminogen Activator Inhibitor 1 ; genetics ; Polymorphism, Genetic

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Attenuation of telomerase activity by hammerhead ribozyme targeting the 5'-end of hTERT mRNA.

Yi QU ; Shuqiu LIU ; Bailin LIU

Chinese Journal of Medical Genetics.2002;19(5):389-392.

OBJECTIVETo assess the telomerase activity inhibitory effect of ham merhead ribozyme targeting the 5'-end of human telomerase reverse transcriptase mRNA (hTERT-5'RZ), to compare it with the effect of another ribozyme teloRZ, and the combine the applications of the two ribozymes.

METHODShTERT-5'RZ gene was synthesized and cloned into pcDNA3.1(+); the ribozyme was produced by in vitro transcription. The teloRZ ribozyme was produced in the same way by in vitro transcription of p(SPT19-teloRZ) which had been constructed by the present authors. The ribozymes were transiently transfected into HeLa cells by liposome every 24 hours. After 72 hours, the cells were collected and their telomerase activities were assayed.

RESULTSThe ribozyme targeting the 5'-end of hTERT mRNA exhibited a very strong telomerase-inhibitory activity, the combined use of hTERT-5'RZ and teloRZ also showed clear inhibitory activity, but the inhibitory effect of teloRZ used alone was not so strong.

CONCLUSIONThese observations suggest that the use of hTERT-5'RZ and the combined use of hTERT-5'RZ and teloRZ are more effective in telomerase inhibition as compare with the use of teloRZ alone. They may find applications in cancer therapy.

5' Untranslated Regions ; Cloning, Molecular ; DNA-Binding Proteins ; HeLa Cells ; Humans ; RNA, Catalytic ; metabolism ; RNA, Messenger ; Telomerase ; antagonists & inhibitors ; genetics ; Transcription, Genetic

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Study on point mutations in mitochondrial DNA control region for replication DLP(6) of cultured dermal fibroblast with 8-MOP/UVA treatment.

Zhongrong LIU ; Rongqing LIU ; Guowei ZHANG ; Fei HAO ; Heng YAN

Chinese Journal of Medical Genetics.2002;19(5):386-388.

OBJECTIVETo investigate the relationships between skin photoaging and point mutations in mitochondrial DNA (mtDNA) control region for replication of dermal fibroblast.

METHODSCultured dermal fibroblasts were treated by 8-methoxypsora len /ultraviolet A (8-MOP/UVA). mtDNA was extracted by one-step-method and th e PCR products of D-loop and adjacent transcription promoter (DLP(6)) fragment of mtDNA control region for replication were detected by polymerase chain reaction-single strain conformation polymorphism and direct sequencing.

RESULTSAfter treated by 8-MOP/UVA, point mutations of 414 T-->G of DLP(6) fragment of mtDNA control region for replication largely accumulated.

CONCLUSIONAccumulation of point mutations of DLP(6) fragment of mtDNA control region for replication may be closely associated with skin photoaging.

Adult ; Binding Sites ; Cells, Cultured ; DNA Replication ; DNA, Mitochondrial ; drug effects ; radiation effects ; Dermis ; cytology ; Fibroblasts ; cytology ; drug effects ; radiation effects ; Humans ; Male ; Methoxsalen ; pharmacology ; Photosensitizing Agents ; pharmacology ; Point Mutation ; Ultraviolet Rays

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Analysis of mutation sites of BRCA1 gene in Chinese patients with breast cancer.

Yuxiong KE ; Xufen WANG ; Meiguang FENG ; Candong WEI ; Zhengwen JIANG ; Li JIN ; Daru LU

Chinese Journal of Medical Genetics.2002;19(5):383-385.

OBJECTIVETo detect the mutation sites of exons 2, 20, 11A and 11B in Chinese patients with breast cancer.

METHODSA total of 86 patients with breast cancer without blood relationship were randomly selected. Polymerase chain reaction (PCR) and double-strand DNA direct sequencing were applied.

RESULTSNo mutations, especially deletions were found in exons 2, 20 and 11 with carefully checking the sequencing results, although they were reported frequently in Europe populations with breast cancer. We found one polymorphism in exon 11, with high frequency, and in the test of chi-square, the frequencies of two alleles had no significant difference between the patients and controls.

CONCLUSIONThe above results suggest this SNP may not be associated with the breast cancer in Chinese population, and indicates that the gene sequence of what we have studied doesn't account much for occurrence of the breast cancer in the population of China.

Asian Continental Ancestry Group ; genetics ; BRCA1 Protein ; genetics ; Breast Neoplasms ; genetics ; Exons ; Female ; Gene Frequency ; Humans ; Mutation ; Polymorphism, Genetic

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Preliminary study on the gene expression profiles of oligodendrogliom as with cDNA array.

Rongcai JIANG ; Peiyu PU ; Yu ZHENG ; Chunsheng KANG ; Guangxiu WANG ; Chunyan WANG

Chinese Journal of Medical Genetics.2002;19(5):379-382.

OBJECTIVETo study the gene expression profiles of oligodendrogliomas with gene cDNA array.

METHODS(32)P tagged cDNA probes converted from the total RNA, which had been extracted from 2 fresh samples of oligodendroglioma and 1 of normal brain tissue, were hybridized with the Atlas array. After washing the membranes, the autoradiography was performed and the autoradiograms were analyzed through the special software.

RESULTSAs compared to the normal brain tissue, there were 63 co-upregulated genes and 4 co-downregulated genes in these 2 tumor samples. However, a significant quantitative difference existed between them. The expression trend of some genes differed from the known information.

CONCLUSIONcDNA array is effective for studying the gene expression profiles of oligodendrogliomas and provides new information for the further research on their molecular mechanisms.

Brain Neoplasms ; genetics ; pathology ; Gene Expression ; Gene Expression Profiling ; Humans ; Oligodendroglioma ; genetics ; pathology ; Oligonucleotide Array Sequence Analysis ; methods ; Reverse Transcriptase Polymerase Chain Reaction

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Establishment and application of multiplex FISH in detection of the complex chromosome abnormalities in leukemia.

Meng ZHAO ; Bing CHEN ; Lu WANG ; Lan XU ; Qi CAO ; Xinying SU ; Saijuan CHEN

Chinese Journal of Medical Genetics.2002;19(5):375-378.

OBJECTIVETo set up the technical system of multiplex fluorescence in situ hybridization M-FISH and to explore its application in detection of the complex chromosome abnormalities in leukemia.

METHODSThe complex chromosome abnormalities of two leukemia patients were analyzed by the combination use of classical cytogenetics, chromosome painting (CP), FISH and M-FISH.

RESULTSIn a case of acute lymphoblastic leukemia-L2, the complex karyotype: 46,XY,der(2)t(2;9),der(9)t(9;12;22) was identified by M-FISH, which was detected as 46,XY,der(9)t(9;12) by classical cytogenetics; In a case of acute monocytic leukemia-M5, the complex chromosome abnormalities: 46,XY,der(2)t(2;17), der(10)t(10;11;17), der(11)t(11;?) was revealed by M-FISH, which was confirmed by CP and FISH, and mixed lineage leukemia (MLL) gene was also found involved in this complex chromosome translocation.

CONCLUSIONM-FISH was proved to be a powerful tool to examine the complicated karyotypes and hopefully to elucidate nearly all chromosomal aberrations in leukemia and other cancers.

Chromosome Aberrations ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; diagnosis ; genetics

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