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Polymorphisms of four STRs and their associations with IDDM in Chinese Han population.

Z A ; S ZHANG ; C XIAO ; W LI ; Y HOU ; J ZHU ; J WANG

Chinese Journal of Medical Genetics.2000;17(4):248-251.

OBJECTIVETo obtain the polymorphic data of short tandem repeat(STR) loci of D15S657, D11S1369, D6S2420 and D6S503 in Chinese Han population and to study the association of these four STR loci with insulin-dependent diabetes mellitus(IDDM).

METHODSThe polymorphisms of the four STRs were studied by polymerase chain reaction-polyacrylamide gel electrophoresis(PCR-PAGE) followed by direct sequencing of PCR products in 105 normal Chinese Hans and 48 patients with IDDM.

RESULTSSeven alleles at D15S657 locus, 5 alleles at D11S1369 locus, 7 alleles at D6S2420 locus and 4 alleles at D6S503 locus were found. No deviation from Hardy-Weinberg equilibrium was observed. The heterozygosities of these loci were 0. 7524, 0.6000, 0.6286, 0.6571 and the polymorphic information contents(PIC) 0.7616, 0.4430, 0.5345 and 0.5932, respectively. The allele frequencies of allele A(5) at D15S657 locus, allele A(5) at D11S1369 locus and allele A(4) at D6S2420 locus were increased significantly in patients with IDDM, compared to those in the control group.

CONCLUSIONThe four STRs, used as genetic markers, were suitable for case-control study, forensic medicine identification and population genetic study. There is an association between the polymorphisms of D15S657, D11S1369, D6S2420 and IDDM.

Adult ; Aged ; China ; ethnology ; Diabetes Mellitus, Type 1 ; genetics ; Female ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; Tandem Repeat Sequences

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The study of the correlation between the clinical phenotype of spinal muscular atrophy and SMN2 gene copy number.

Li-ping LU ; Hong-wei MA ; Jun JIANG ; Tao WANG ; Bin HU

Chinese Journal of Medical Genetics.2007;24(2):144-147.

OBJECTIVETo detect the correlation between the clinical phenotype of spinal muscular atrophy (SMA) and survival motor neuron gene (SMN2) copy number.

METHODSThe SMN2 gene copy numbers of 57 different types of SMA were detected by real-time fluorescence quantitative PCR method with TaqMan technique.

RESULTSAverage SMN2 copy number was 1.017 +/- 0.090, 2.019+/- 0.080, 3.104+/- 0.170 in predicting one, two, three copy numbers, respectively, and CV was 8.9%, 3.9%, 5.4%, respectively. Average SMN2 copy number was 1.926+/- 0.460, 2.508+/- 0.460, 2.876+/- 0.270, in type I, II and III SMA, respectively. The SMN2 gene copy number in type II and III SMA were higher than that of type I SMA (P < 0.01). The SMN2 gene copy number in type III SMA was higher than that of type II SMA (P < 0.01). 85.72% of type I SMA patients usually had 2 SMN2 copies; 40% and 60% of type II SMA patients had 2 and 3 SMN2 copies, respectively; 82% of type III SMA patients had 3 SMN2 copies.

CONCLUSIONThere is significant correlation between the change of SMA clinical phenotype and SMN2 cope number. The distributions of the SMN2 gene copy number are various in different types of SMA patients. All types of SMA patients have at least one copy SMN2. The SMN2 gene copy numbers in type II, III SMA are higher than that of type I. All of these findings suggest that the severity of SMA patients depend on the change of the SMN2 copy numbers.

Gene Dosage ; Genetic Predisposition to Disease ; genetics ; Humans ; Muscular Atrophy, Spinal ; genetics ; pathology ; Phenotype ; Polymerase Chain Reaction ; SMN Complex Proteins ; genetics ; Survival of Motor Neuron 2 Protein

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The clinical application of whole chromosome painting probes in preimplantation genetic diagnosis for translocation carriers.

Xiu-lian REN ; Yan-wen XU ; Guang-lun ZHUANG ; Can-quan ZHOU ; Ying LIU ; Jian-ping OU ; Sui-ping LI

Chinese Journal of Medical Genetics.2007;24(2):140-143.

OBJECTIVETo make preimplantation genetic diagnosis (PGD) for female translocation carriers by analyzing first polar bodies (1PBs) with whole chromosome painting probe (WCP).

METHODSWCP was used in fluorescence in situ hybridization (FISH) analysis of 1PBs for four female Robertsonian carriers presented for PGD with 45 XX, der(13;14)(q10;q10) karyotype. All the patients underwent ovarian stimulation and during 6 h after oocyte retrieval 1PBs were biopsied and WCP were used in FISH. On day 3 after fertilization embryos diagnosed as normal or balanced were transferred.

RESULTSA total of 61 oocytes were collected in 4 PGD cycles. Of the 54 matured oocytes, 50 were biopsied and 45 were fixed successfully. Results were obtained in 40 1PBs. Overall, 74.1% (40/54) oocytes were diagnosed. The fertilization rate and good embryo rate were 64.8% (35/54) and 65.7% (23/35) respectively. Two clinical pregnancies were obtained. One patient delivered a normal female baby with karyotype 46, XX in June 2006. For another patient, the fetus spontaneously aborted at 9th week of pregnancy with karyotype of 45, X confirmed by amniotic villus diagnosis.

CONCLUSIONWCP can differentiate normal, balanced and unbalanced oocytes accurately and can be used as an efficient PGD method for female carriers of translocation.

Adult ; Chromosome Painting ; methods ; Female ; Heterozygote ; Humans ; In Situ Hybridization, Fluorescence ; Oocytes ; metabolism ; Pregnancy ; Preimplantation Diagnosis ; methods ; Translocation, Genetic ; genetics

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A novel mutation of the alpha-L-iduronidase gene in a patient with mucopolysaccharidosis type I.

Wei DOU ; Chao PENG ; Jun-ke ZHENG ; Xue-fan GU

Chinese Journal of Medical Genetics.2007;24(2):136-139.

OBJECTIVETo investigate the molecular genetic mechanism of a Chinese patient with mucopolysaccharidosis type I (MPS I).

METHODSPCR-sequencing analysis was applied to detect the mutations in exons in alpha-L-iduronidase gene (IDUA) of the patient. Restriction fragment length polymorphism (RFLP) and allele-specific oligonucleotide hybridization (ASO) were used to confirm the identified mutations. PCR amplified DNA samples from 50 normal individuals were sequenced to demonstrate that the newly identified mutation was not polymorphism.

RESULTSThe patient was compound heterozygous for a previously reported nonsense mutation Q60X (178C > T) in exon 2, inherited from the mother, and a newly detected missense mutation D203N (607G > A) in exon 6 from the father. The newly identified mutation D203N was not found in PCR amplified products from 50 normal individuals, indicating that it was not polymorphism.

CONCLUSIONThe two identified mutations may be the cause resulting in patient's clinical phenotype.

Adolescent ; Base Sequence ; Codon, Nonsense ; DNA Mutational Analysis ; Exons ; genetics ; Female ; Humans ; Iduronidase ; genetics ; Male ; Mucopolysaccharidosis I ; genetics ; Mutation ; Mutation, Missense ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length

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Analysis of chromosome aberrations in the cell derived from primary cell culture of laryngeal carcinoma and the Hep-2 cell line.

Ning KANG ; Fu-cai LI ; Wei-neng FU ; Jing-hai ZHANG ; Kai-lai SUN

Chinese Journal of Medical Genetics.2007;24(2):131-135.

OBJECTIVETo search for characteristic chromosome changes in primary laryngeal squamous cell carcinoma (LSCC) and Hep-2 cell line and to realize the relationship between the cytogenetic abnormality and the pathogenetic mechanism in LSCC.

METHODSThe fresh resulted samples of LSCC were analyzed with an improved primary cell culture for chromosome preparation and G-banding technique. Hep-2 cell line was analyzed by high resolution banding technique. Molecular cytogenetics analysis was made by chromosome 6 painting probe.

RESULTSFour primary LSCC succeeded in primary cell culture and obtained metaphases, one was tetraploid, the other three were triploid. The chromosome mode of Hep-2 cell line was from 68 to 75 and fifteen marker chromosomes were found. The most structural abnormalities of chromosome in primary LSCC and HEP-2 cell line were unbalance translocation, terminal deletion and isochromosome. The complicate aberration in chromosome 6 was common in LSCC and Hep-2.

CONCLUSION6q-, I(5p), 17p-, 5q- are considered as characteristic chomosome changs in LSCC. Fluorescence in situ hybridization (FISH) may enhance the ability of detecting complicated chromosome rearrangements and marker chromosomes, which could provide more value data to verify the chromosome characteristic aberration in LSCC.

Cell Line, Tumor ; Chromosome Aberrations ; Humans ; In Situ Hybridization, Fluorescence ; Laryngeal Neoplasms ; genetics ; pathology ; Tumor Cells, Cultured

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Cloning and characterization of down-regulated genes in neural tube defects of golden hamster induced by hyperthermia.

Qing YANG ; Ying-mao GAO ; Shao-ling LI

Chinese Journal of Medical Genetics.2007;24(2):128-130.

OBJECTIVETo clone down-regulated genes in neural tube defects of golden hamster induced by hyperthermia and to explore the molecular mechanism.

METHODSA reversed subtractive cDNA library was constructed using suppression subtractive hybridization. Clones with inserts were selected by combination of alpha complementary phenomenon and colony PCR. Then sequence and homology analysis of the inserts were made. And mRNA expression conditions were confirmed by Northern blot.

RESULTSThe reversed subtractive cDNA library was successfully constructed. Fifteen recombinant clones were sequenced and recognized homologous to known genes. The results of Northern blot showed that all these genes were down-regulated in defected neural tubes induced by hyperthermia compared to normal developed neural tubes.

CONCLUSIONSome important genes are identified which might be involved in neural tube defects induced by hyperthermia.

Animals ; Blotting, Northern ; Cloning, Molecular ; Cricetinae ; Female ; Gene Library ; Hyperthermia, Induced ; adverse effects ; Mesocricetus ; Neural Tube Defects ; etiology ; genetics

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Germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome.

Jin ZHANG ; Yi-ran HUANG ; Jia-hua PAN ; Dong-ming LIU ; Li-xin ZHOU ; Wei XUE ; Qi CHEN

Chinese Journal of Medical Genetics.2007;24(2):124-127.

OBJECTIVETo investigate the germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome (VHL) and to explore its role in clinical management.

METHODSThe clinical and familial data were reviewed from 6 Chinese kindreds with VHL, of which the VHL germ line mutation in 21 members was analysed by polymerase chain reaction and sequencing analysis.

RESULTSAmong 6 kindreds, there were 5 type I and 1 type IIA. The germ line mutations consisted of 4 missense mutations, 1 nonsense mutation and 1 deletion, of which 4 mutations existed in exon 1, 1 in exon 2 and 1 in exon 3. Of the 21 members who volunteered for genetic analysis, 14 members presented the VHL germ line mutations, including 10 affected patients, 1 suspected patients and 3 carriers.

CONCLUSIONThe germ line mutations in Chinese kindreds with VHL could be dominant in exon 1. It plays an important role in early detection of asymptomatic patients and the carriers, in the diagnosis of VHL and the clinical screening for members in the VHL families.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Codon, Nonsense ; genetics ; DNA Mutational Analysis ; Exons ; genetics ; Family Health ; Female ; Gene Deletion ; Germ-Line Mutation ; genetics ; Humans ; Male ; Middle Aged ; Mutation, Missense ; genetics ; Pedigree ; Polymerase Chain Reaction ; Von Hippel-Lindau Tumor Suppressor Protein ; genetics ; von Hippel-Lindau Disease ; ethnology ; genetics

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Study on the association between the HLA-DRB1 alleles and type 2 diabetes in Yi nationality of Yunnan.

Hong-ying YANG ; Li XUE ; Mian XU ; Chun-feng REN ; Hui-yun YUAN ; Wen-lin TAI ; Yu YANG ; Wei HE

Chinese Journal of Medical Genetics.2007;24(1):101-103.

OBJECTIVETo investigate the association between the polymorphism of HLA-DRB1 alleles and type 2 diabetes mellitus in Yi nationality of Yunnan.

METHODSPolymerase chain reaction-sequence specific primers (PCR-SSP) genotyping method was conducted in 79 patients with type 2 diabetes mellitus and 47 ethnically matched controls in Yi Nationality Autonomous Prefecture, Chuxiong.

RESULTSHLA-DR7 and DR11 allele frequencies in type 2 diabetic mellitus patients were significantly higher than those in non-diabetic control subjects respectively(P is 0.009, RR is 8.329;P is 0.029, RR is 7.734).

CONCLUSIONDR7 and DR11 alleles are probably susceptible genes of type 2 diabetes mellitus in Yunnan Yi nationality.

Adult ; Aged ; Aged, 80 and over ; Alleles ; Base Sequence ; China ; Diabetes Mellitus, Type 2 ; genetics ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Sequence Analysis, DNA

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Polymorphism of fifteen short tandem repeat loci in Maonan minority of Guangxi.

Lin XU ; Song-feng LI ; Qiong-ying DENG ; Li-ning ZHOU ; Ji-chun GONG ; Rui XU

Chinese Journal of Medical Genetics.2007;24(1):97-100.

OBJECTIVETo study the genetic polymorphism of 15 short tandem repeat (STR) (D2S1338ì D3S1358ì D5S818ì D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, CSF1PO, TPOX, TH01, vWA, FGA) in Maonan minority of Guangxi province.

METHODSThe allele frequencies and the genotype of 15 STR loci were analyzed in 143 unrelated individuals in Maonan minority of Guangxi by PCR-STR and genescan.

RESULTSThere were 130 STR alleles and 390 genotypes in the 15 STR of Maonan minority, with allele frequencies ranging from 0.0035 to 0.5385. The average heterozygosity was 0.7697, the discrimination power was higher than 0.8 except for that of TPOX, the accumulative discrimination power was more than 0.999999999, and the probability of paternity exclusion was more than 0.99999918.

CONCLUSIONThe 15 STR loci of Maonan minority in Guangxi possesses the characteristics of high genetic diversity, except for the TPOX locus. They can be employed in minority genetics investigation, individual and paternity test in forensic medicine.

Adult ; Aged ; Aged, 80 and over ; Alleles ; China ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Microsatellite Repeats ; genetics ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics

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Genetic polymorphisms of 14 Y-chromosomal short tandem repeat loci and haplotypes in Tibetan.

Jian-min ZHAO ; Dong-ya YUAN ; Long-li KANG ; Kai LIU ; Sheng-bin LI

Chinese Journal of Medical Genetics.2007;24(1):94-96.

OBJECTIVETo reveal the allelic frequencies and haplotype frequencies of fourteen Y-chromosome short tandem repeat (STR) loci in a Tibetan population.

METHODSThe Y-chromosomal STR loci were analyzed from 126 healthy unrelated autochthonous male individuals of Chinese Tibetan using a multiplex PCR system. Allele and haplotype frequencies for these loci were determined by the AmpFISTR Y filer PCR Amplification kit.

RESULTSOne hundred and twenty-one alleles were detected from the 14 STR loci. The allele diversity values (DP) for each locus ranged from 0.4104 (DYS391) to 0.9489 (DYS385a, b), the DP value of these loci were higher than 0.5 except for that of DYS391. A total of 105 haplotypes were identified in the Y-STR loci, among which 103 were unique, while two occurred more than once. The overall haplotype diversity for the Y-STR loci was 0.9998, and the discrimination capacity was 0.9898.

CONCLUSIONThe 14 STR loci above belong to loci of high discriminating ability, the haplotypes are highly polymorphic.

Alleles ; Chromosomes, Human, Y ; genetics ; Gene Frequency ; Haplotypes ; genetics ; Humans ; Male ; Microsatellite Repeats ; genetics ; Polymorphism, Genetic ; genetics ; Tibet

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