1.EST-SSR identification of Lonicera japonica Thunb.
Chao JIANG ; Yuan YUAN ; Gui-Ming LIU ; Lu-Qi HUANG ; Xu-Min WANG ; Jun YU ; Min CHEN
Acta Pharmaceutica Sinica 2012;47(6):803-810
Simple and effective methods are needed for the identification of Chinese medicinal material species and their variety. Lonicera japonica Thunb. is one of Chinese herbal medicines widely demanded. A total of 3 705 EST-SSRs of L. japonica and 2 818 EST-SSRs of L. japonica var. chinensis Thunb. were identified from EST database in our lab. In average, there was one EST-SSR per 4.05 kb in L. japonica ESTs and per 7.49 kb in L. japonica var. chinensis ESTs, separately. The identified SSRs in L. japonica were consisted of 51.98% dinucleotide and 34.61% trinucleotide repeats, while SSRs in L. japonica var. chinensis had 57.45% dinucleotide and 30.09% trinucleotide. The results reviewed that the classes AG/TC and GAG/TCT were predominant in the dinucleotide motifs and the trinucleotide motifs, respectively. Total 87 EST-SSRs were identified of significant difference between L. japonica and L. japonica var. chinensis. PCR products were obtained from 52 L. japonica samples in 13 out of 15 SSR markers tested. The polymorphism in L. japonica, L. japonica var. chinensis and other honeysuckles could be distinguished by three markers (jp.ssr4, jp.ssr64 and jp.ssr65) tested.
Dinucleotide Repeats
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Expressed Sequence Tags
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Flowers
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genetics
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Lonicera
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classification
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genetics
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Microsatellite Repeats
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Plants, Medicinal
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classification
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genetics
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Polymerase Chain Reaction
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Polymorphism, Genetic
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Trinucleotide Repeats
2.Diagnosis of hemophilia A by a combination of St14(DXS52) VNTR polymorphism and (CA)n repeat polymorphism within FVIII gene.
Chang-gao ZHONG ; Lu-yun LI ; Guang-xiu LU
Chinese Journal of Medical Genetics 2004;21(1):80-82
OBJECTIVETo improve the accuracy and the diagnostic rate of gene diagnosis and prenatal gene diagnosis for hemophilia A (HA) families.
METHODSLinkage analysis was performed by using St14(DXS52) VNTR polymorphism and intron 13 (CA)n repeat polymorphism of the factor VIII gene among HA families for indirect diagnosis.
RESULTSThe diagnostic rates using linkage analysis based upon one of the above mentioned two polymorphic loci among 9 HA families were 66.7% and 66.7%, respectively. The diagnostic rate rose to 88.9% by using a combination of the two polymorphic loci. Prenatal gene diagnoses were performed for 4 HA families. A wrong prenatal diagnosis which may happen when linkage analysis was performed by using only St14 VNTR was monitored.
CONCLUSIONThe rapid and accurate gene diagnosis and prenatal gene diagnosis could be performed by a combination of the two polymorphic loci for about 90% HA families.
Chromosomes, Human, X ; genetics ; Dinucleotide Repeats ; genetics ; Factor VIII ; genetics ; Family Health ; Female ; Hemophilia A ; diagnosis ; genetics ; Humans ; Male ; Minisatellite Repeats ; genetics ; Pedigree ; Polymorphism, Genetic ; Pregnancy ; Prenatal Diagnosis ; methods ; Reproducibility of Results ; Sensitivity and Specificity
3.Correlation between epidermal growth factor receptor (EGFR) intron1 (CA) n microsatellite polymorphism, lymph node metastasis and expression of EGFR in non-small cell lung cancer.
Li ZHAO ; Xin JIANG ; Fang PENG ; Ren ZHOU
Chinese Journal of Pathology 2010;39(7):476-477
Adult
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Aged
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Aged, 80 and over
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Alleles
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Carcinoma, Non-Small-Cell Lung
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genetics
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metabolism
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pathology
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Dinucleotide Repeats
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genetics
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Female
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Humans
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Introns
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genetics
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Lung Neoplasms
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genetics
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metabolism
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pathology
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Lymphatic Metastasis
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Male
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Middle Aged
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Receptor, Epidermal Growth Factor
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genetics
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metabolism
4.Study on association of CTLA4 gene polymorphism with Grave's disease in Guangxi Zhuang nationality population.
Xing-huan LIANG ; Ying-fen QIN ; Yan MA ; Xin-rong XIE ; Kai-qing XIE ; Zuo-jie LUO
Chinese Journal of Medical Genetics 2006;23(3):306-309
OBJECTIVETo investigate the relationship between the polymorphic (AT)n repeats in 3ountranslated region of exon 4 of CTLA4 gene [CTLA4(AT)n] and Graveso disease (GD) in Zhuang nationality population of Guangxi province.
METHODSThe studied groups comprised 48 patients with GD and 44 normal controls. Amplification of target DNA was carried out by polymerase chain reaction (PCR). The amplified products were run by 8% polyacrylamide gel electrophoresis, and then followed by 0.1% silver staining. Some of amplified products were sequenced directly.
RESULTSNineteen alleles of CTLA4 gene microsatellite polymorphism were found in Guangxi Zhuang nationality individuals. The 106 bp long allele was apparently increased in patients with GD of Zhuang nationality but not in healthy controls (P< 0.05).
CONCLUSIONCTLA4 gene microsatellite polymorphism is strongly associated with Graveso disease in Zhuang nationality population of Guangxi province. CTLA4(AT)n 106 bp may be the susceptible gene in GD patients of Zhuang nationality in Guangxi; 19 alleles of CTLA4 gene microsatellite polymorphism were found in Guangxi Zhuang nationality individuals.
Adult ; Antigens, CD ; genetics ; Base Sequence ; CTLA-4 Antigen ; China ; Dinucleotide Repeats ; genetics ; Female ; Genetic Predisposition to Disease ; genetics ; Graves Disease ; genetics ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics ; Sequence Analysis, DNA
5.Association of polymorphisms of STAT6 and SO(2) with Chinese childhood asthma: a case-control study.
Qiang WANG ; Xue Tao BAI ; Dong Qun XU ; Hong LI ; Chun Yu XU ; Jian Long FANG
Biomedical and Environmental Sciences 2011;24(6):670-677
OBJECTIVETo investigate the association of polymorphisms of STAT6 gene and air pollutants of PM(10), NO(2), and SO(2), with asthma in Chinese children.
METHODS418 subjects aged 14 years and under were recruited in a case-control study. The association between STAT6 polymorphisms and childhood asthma were tested by allele frequency, genotype analysis, and MDR analysis. Exposure to outdoor air pollutants was estimated by a 5-day moving average level. Statistical analyses were performed with SAS 9.1 software.
RESULTSOnly 3 alleles of GT repeats at exon 1 of STAT6 were found in Chinese children. C258T and T710C were 2 new SNPs of STAT6 at 3'-UTR. Children who carried T allele of C258T were more common in asthma children than in control subjects (P<0.05). The MDR analysis showed that GT repeats, C258T and T710C of STAT6 polymorphisms interacted together in leading to susceptibility to childhood asthma among Chinese people. After confounding factors were controlled, such as SNP C258T, family history of asthma, frequency of influenza within a year, the 5-day average of SO(2) was tested to be a key risk factor of asthma in Chinese children (P<0.05).
CONCLUSIONChinese children differed in polymorphisms of STAT6 and in its relation with childhood asthma.
Adolescent ; Air Pollutants ; toxicity ; Asian Continental Ancestry Group ; genetics ; Asthma ; chemically induced ; epidemiology ; genetics ; Case-Control Studies ; Child ; Child, Preschool ; China ; epidemiology ; Dinucleotide Repeats ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Polymorphism, Single Nucleotide ; STAT6 Transcription Factor ; genetics ; Sulfur Dioxide ; toxicity
6.HMOX1 Gene Promoter Polymorphism is Not Associated with Coronary Artery Disease in Koreans.
Seong Woo HAN ; Wonkeun SONG ; Han Sung KIM ; Kyu Sung SHIN ; Heejung KANG ; Hyoun Chan CHO ; Chang Seok KI ; Min Jeong PARK
Annals of Laboratory Medicine 2014;34(5):337-344
BACKGROUND: The heme oxygenase-1 gene (HMOX1) promoter polymorphisms modulate its transcription in response to oxidative stress. This study screened for HMOX1 polymorphisms and investigated the association between HMOX1 polymorphisms and coronary artery disease (CAD) in the Korean population. METHODS: The study population consisted of patients with CAD with obstructive lesions (n=110), CAD with minimal or no lesions (n=40), and controls (n=107). Thirty-nine patients with CAD with obstructive lesions underwent follow-up coronary angiography after six months for the presence of restenosis. The 5'-flanking region containing (GT)n repeats of the HMOX1 gene was analyzed by PCR. RESULTS: The numbers of (GT)n repeats in the HMOX1 promoter showed a bimodal distribution. The alleles were divided into two subclasses, S25 and L25, depending on whether there were less than or equal to and more than 25 (GT)n repeats, respectively. The allele and genotype frequencies among groups were statistically not different. More subjects in the S25-carrier group had the low risk levels of high sensitivity C-reactive protein (hsCRP) for the CAD than those in the non-S25 carrier group (P=0.034). Multivariate logistic regression analysis revealed that the genotypes of (GT)n repeats were not related to CAD status. The restenosis group in the coronary angiography follow-up did not show any significant difference in HMOX1 genotype frequency. CONCLUSIONS: The HMOX1 genotypes were not found to be associated with CAD, but the short allele carrier group contained more individuals with hsCRP values reflecting low risk of cardiovascular disease in the Korean population.
5' Untranslated Regions
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Adult
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Alleles
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Asian Continental Ancestry Group/*genetics
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C-Reactive Protein/analysis
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Coronary Angiography
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Coronary Artery Disease/*genetics/pathology
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Coronary Restenosis/complications/therapy
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Dinucleotide Repeats/genetics
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Female
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Genetic Predisposition to Disease
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Genotype
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Heme Oxygenase-1/*genetics
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Humans
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Male
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Middle Aged
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Polymorphism, Genetic
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Promoter Regions, Genetic
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Republic of Korea
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Risk Factors