当前位置： SCI文献检索 > HUMAN GENETICS期刊下所有文献 > Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.

Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.

Abstract：

:Most individuals with osteogenesis imperfecta (OI) are heterozygous for dominant mutations in one of the genes that encode the chains of type I collagen. Each of the more than 30 mutations characterized to date has been unique to the affected member(s) of the family. We have determined that two individuals with a progressive deforming variety of OI, OI type III, have the same new dominant mutation [alpha 1(I)gly154 to arg] and that two unrelated infants with perinatal lethal OI, OI type II, share a second new dominant mutation [alpha 1(I)gly1003 to ser]. These mutations occurred at CpG dinucleotides, in a manner consistent with deamination of a methylated cytosine residue, and raise the possibility that CpG dinucleotides are common sites of recurrent mutations in collagen genes. Further, these findings confirm that the OI type-III phenotype, previously thought to be inherited in an autosomal recessive manner, can result from new dominant mutations in the COL1A1 gene of type-I collagen.

journal_name

Hum Genet

journal_title

Human genetics

authors

Pruchno CJ,Cohn DH,Wallis GA,Willing MC,Starman BJ,Zhang XM,Byers PH

doi

10.1007/BF01213088

subject

Has Abstract

pub_date

1991-05-01 00:00:00

pages

33-40

issue

1

eissn

0340-6717

issn

1432-1203

journal_volume

87

pub_type

杂志文章

相关文献

HUMAN GENETICS文献大全
  • Confined chorionic mosaicism in prenatal diagnosis.

    abstract：:Confined chorionic mosaicism, detected commonly on chorionic villus sampling (CVS) and occasionally in cultured amniotic fluid cells, is described in five pregnancies that showed confined chorionic mosaicism for trisomies 12, 13, 14, 17 and a marker chromosome. Cytogenetic findings in these pregnancies support the con...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00272385

    authors： Kalousek DK,Dill FJ,Pantzar T,McGillivray BC,Yong SL,Wilson RD

    更新日期：1987-10-01 00:00:00

  • Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.

    abstract：:Every author has erroneously been assigned to the affiliation "62". The affiliation 62 belongs to the author Graham Casey. ...

    journal_title：Human genetics

    pub_type： 已发布勘误

    doi：10.1007/s00439-019-02030-8

    authors： Bien SA,Su YR,Conti DV,Harrison TA,Qu C,Guo X,Lu Y,Albanes D,Auer PL,Banbury BL,Berndt SI,Bézieau S,Brenner H,Buchanan DD,Caan BJ,Campbell PT,Carlson CS,Chan AT,Chang-Claude J,Chen S,Connolly CM,Easton DF,Fesk

    更新日期：2019-07-01 00:00:00

  • Predivision in human oocytes at meiosis I: a mechanism for trisomy formation in man.

    abstract：:Cytogenetic preparations from oocytes remaining unfertilised after in vitro fertilisation revealed single chromatids (as opposed to whole chromosomes) in 4 out of 38 meiosis II metaphases. In one oocyte, a single chromatid was present in addition to the normal 23,X complement, and in three oocytes, two identical but s...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00201839

    authors： Angell RR

    更新日期：1991-02-01 00:00:00

  • Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?

    abstract：:Cytogenetic and molecular genetic findings in 91 patients with Turner syndrome are reported. In 87 patients, chromosome studies were carried out both in lymphocyte and fibroblast cultures. Mosaicism was demonstrated in 58 of these patients (66.7%), whereas only 18 (20.7%) were apparent non-mosaic 45,X, and 11 patients...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00197261

    authors： Held KR,Kerber S,Kaminsky E,Singh S,Goetz P,Seemanova E,Goedde HW

    更新日期：1992-01-01 00:00:00

  • Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).

    abstract：:HPRT Ann Arbor is a variant of hypoxanthine (guanine) phosphoribosyl-transferase (HPRT: EC 2.4.2.8), which was identified in wo brothers with hyperuricemia and nephrolithiasis. In previous studies, this mutant enzyme was characterized by an increased Km for both substrates, a normal Vmax, a decreased intracellular con...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00291707

    authors： Fujimori S,Hidaka Y,Davidson BL,Palella TD,Kelley WN

    更新日期：1988-05-01 00:00:00

  • The rare 13q33-q34 microdeletions: eight new patients and review of the literature.

    abstract：:The objective of this study is to shed light on the phenotype and inheritance pattern of rare 13q33-q34 microdeletions. Appropriate cases were retrieved using local databases of two largest Israeli centers performing CMA analysis. In addition, literature search in PubMed, DECIPHER and ClinVar databases was performed. ...

    journal_title：Human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s00439-019-02048-y

    authors： Sagi-Dain L,Goldberg Y,Peleg A,Sukenik-Halevy R,Sofrin-Drucker E,Appelman Z,Josefsberg BYS,Ben-Shachar S,Vinkler C,Basel-Salmon L,Maya I

    更新日期：2019-10-01 00:00:00

  • Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism.

    abstract：:Congenital hypothyroidism affects 1/3000-4000 newborns and it has been estimated that 10-20% are familial cases with an autosomal recessive mode of inheritance. Previous studies of mostly individual cases have led to the identification of mutations in a number of genes, indicating that it is a genetically heterogeneou...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-002-0680-z

    authors： Ahlbom BE,Yaqoob M,Gustavsson P,Abbas HG,Annerén G,Larsson A,Wadelius C

    更新日期：2002-02-01 00:00:00

  • Admixture-matched case-control study: a practical approach for genetic association studies in admixed populations.

    abstract：:Case-control genetic association studies in admixed populations are known to be susceptible to genetic confounding due to population stratification. The transmission/disequilibrium test (TDT) approach can avoid this problem. However, the TDT is expensive and impractical for late-onset diseases. Case-control study desi...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-005-0080-2

    authors： Tsai HJ,Kho JY,Shaikh N,Choudhry S,Naqvi M,Navarro D,Matallana H,Castro R,Lilly CM,Watson HG,Meade K,Lenoir M,Thyne S,Ziv E,Burchard EG

    更新日期：2006-01-01 00:00:00

  • A substitution of cytosine for thymine in codon 110 of the human beta-globin gene is a novel cause of beta-thalassemia phenotypes.

    abstract：:We have described a novel human globin gene mutation that produced in a Japanese family the beta-thalassemia phenotype through a post-translational mechanism. Substitution of proline for leucine at position 110 in the G-helix of the beta-globin chain greatly reduced the molecular stability of the beta-globin subunit, ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00451448

    authors： Naritomi Y,Naito Y,Nakashima H,Yokota E,Imamura T

    更新日期：1988-09-01 00:00:00

  • Human pancreatic amylase polymorphism: formal genetics and population genetics.

    abstract：:The genetically determined polymorphism of human pancreatic amylase (E.C. 3.2.1.1), AMY2, is demonstrated in serum specimens by agarose gel electrophoresis. We investigated 325 mother-child pairs and 2594 unrelated individuals from southwestern Germany. This study confirms the formal hypothesis of two common alleles A...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00287179

    authors： Kömpf J,Siebert G,Ritter H

    更新日期：1979-10-01 00:00:00

  • Hemoglobin G San José [beta 2 7 (A4) Glu to Gly alpha 2], beta thalassemia, and alpha thalassemia in a Sicilian family.

    abstract：:A 3-year-old child of Sicilian origin was found to have a severe form of Cooley's anemia. Investigations were extended to other members of her family. In three, a rare beta-chain structural Hb variant, Hb G San José [beta 7 (A4) Glu to Gly], was observed: in the father of the porposita heterozygosity for the abnormal ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00271579

    authors： Musumeci S,Schilirò G,Pizzarelli G,Tentori L,Marinucci M,Fontanarosa PP,Russo G

    更新日期：1979-11-01 00:00:00

  • Synergistic contribution of CD14 and HLA loci in the susceptibility to Buerger disease.

    abstract：:Buerger disease (BD) is an occulusive vascular disease of unknown etiology. Although cigarette smoking is a well-known risk factor of BD, genetic factors may also play a role in the etiology. Because chronic bacterial infection such as oral periodontitis is suggested to be involved in the pathogenesis of BD, gene poly...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-007-0408-1

    authors： Chen Z,Takahashi M,Naruse T,Nakajima T,Chen YW,Inoue Y,Ishikawa I,Iwai T,Kimura A

    更新日期：2007-11-01 00:00:00

  • Different inducibility and possible significance of several concomitant "fragile sites" in two brothers.

    abstract：:Concomitance of four fragile sites (at 16p13, 16q22, 16q23, Yq12) in the lymphocyte cultures of two brothers is reported. The expression of each of these fragile sites was enhanced (or induced) by different culture conditions. Some of the inducing conditions are already known and others are reported here for the first...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00278791

    authors： Shabtai F,Orlin J,Hart J,Halbrecht I,Klar D,Friedman J

    更新日期：1986-09-01 00:00:00

  • Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level.

    abstract：:Amplification of the beta-globin gene by the polymerase chain reaction (PCR) and direct sequencing were used for a fast and reliable identification of the beta-globin variant Hb D Los Angeles and revealed the predicted G----C substitution in codon 121. The same method showed the molecular defect in Hb Presbyterian to ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00196236

    authors： Schnee J,Aulehla-Scholz C,Eigel A,Horst J

    更新日期：1990-03-01 00:00:00

  • Genomic markers to tailor treatments: waiting or initiating?

    abstract：:The decade since the publication of the Human Genome Project draft has ended with the discovery of hundreds of genomic markers related to diseases and phenotypes. However, the project has not yet delivered on its promise to tailor treatments for individuals. The number of genomic markers in clinical practice is very s...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-011-0986-9

    authors： Tajik P,Bossuyt PM

    更新日期：2011-07-01 00:00:00

  • Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis.

    abstract：:Field inversion gel electrophoresis (FIGE) of SfiI-digested chromosomal DNA was used to demonstrate a 50-kb deletion in one allele of the gene encoding the beta subunit of human hexosaminidase (HEXB at 5q13) of two apparently unrelated patients with Sandhoff disease. In conventional electrophoretic restriction analysi...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00279006

    authors： Bikker H,van den Berg FM,Wolterman RA,de Vijlder JJ,Bolhuis PA

    更新日期：1989-02-01 00:00:00

  • Low incidence of deletion of the esterase D locus in retinoblastoma patients.

    abstract：:Esterase D was quantitatively measured in the red blood cells from three patients from three separate kindreds who had abnormalities of chromosome 13. The esterase D activity was proportional to the number of copies of the q14 region of chromosome 13 present. These findings confirm published data localizing the estera...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00327114

    authors： Dryja TP,Bruns GA,Gallie B,Petersen R,Green W,Rapaport JM,Albert DM,Gerald PS

    更新日期：1983-01-01 00:00:00

  • Harnessing publicly available genetic data to prioritize lipid modifying therapeutic targets for prevention of coronary heart disease based on dysglycemic risk.

    abstract：:Therapeutic interventions that lower LDL-cholesterol effectively reduce the risk of coronary artery disease (CAD). However, statins, the most widely prescribed LDL-cholesterol lowering drugs, increase diabetes risk. We used genome-wide association study (GWAS) data in the public domain to investigate the relationship ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-016-1647-9

    authors： Tragante V,Asselbergs FW,Swerdlow DI,Palmer TM,Moore JH,de Bakker PIW,Keating BJ,Holmes MV

    更新日期：2016-05-01 00:00:00

  • Familial transmission of 16p trisomy in an infant.

    abstract：:Based on four reported cases including the present case, 16p trisomic infants have remarkably similar features. These are severe developmental delay, psychomotor retardation, typical facies, and anomalies of extremities. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00293904

    authors： Jalal SM,Day DW,Garcia M,Benjamin T,Rogers J

    更新日期：1989-01-01 00:00:00

  • Emerging genotype-phenotype relationships in patients with large NF1 deletions.

    abstract：:The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. Patients with germli...

    journal_title：Human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s00439-017-1766-y

    authors： Kehrer-Sawatzki H,Mautner VF,Cooper DN

    更新日期：2017-04-01 00:00:00

  • Genetic and epigenetic Muller's ratchet as a mechanism of frailty and morbidity during aging: a demographic genetic model.

    abstract：:Mutation accumulation has been proposed as a cause of senescence. During this process, age-related genetic and epigenetic mutations steadily accumulate. Cascading deleterious effects of mutations might initiate a steady "accumulation of deficits" in cells, despite the existence of repair mechanisms, leading to cellula...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-019-02067-9

    authors： Innan H,Veitia R,Govindaraju DR

    更新日期：2020-03-01 00:00:00

  • Three cases of 45,X/46,XYnf mosaicism. Molecular analysis revealed heterogeneity of the nonfluorescent Y chromosome.

    abstract：:Three patients with 45,X/46,XYnf mosaicism were investigated by Southern hybridization using both X- and Y-specific DNA probes. Our patients seem to be hemizygous for the X chromosomal loci tested. Single-copy and low-copy repeated Y chromosomal sequences assigned to the short arm, centromere, and euchromatin of the l...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00284913

    authors： Gänshirt-Ahlert D,Pawlowitzki IH,Gal A

    更新日期：1987-06-01 00:00:00

  • Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7.

    abstract：:The case of a newborn girl with Zellweger syndrome and a pericentric inversion of chromosome 7, 46,XX, inv(7)(p12q11.23), is reported. The diagnosis was confirmed by marked deficiency of peroxisomal beta-oxidation enzymes in hepatic cells from autopsy samples. This is the second case of Zellweger syndrome associated w...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00210677

    authors： Naritomi K,Izumikawa Y,Ohshiro S,Yoshida K,Shimozawa N,Suzuki Y,Orii T,Hirayama K

    更新日期：1989-12-01 00:00:00

  • Four new nucleotide sequence polymorphisms in the LDL receptor gene detected by SSCP analysis.

    abstract：:Seven nucleotide sequence polymorphisms were detected within exons of the low-density lipoprotein (LDL) receptor gene using single-strand conformation polymorphism (SSCP) analysis followed by direct sequence analysis on amplified DNA. Four nucleotide changes at nucleotide positions 1617, 1725, 2232, and 2635 were new ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00216148

    authors： Yamakawa-Kobayashi K,Kobayashi T,Obara T,Hamaguchi H

    更新日期：1993-08-01 00:00:00

  • On consanguineous marriages and the genetic load.

    abstract：:It has been reported that studies of the genetic consequences of inbreeding should adopt a different strategy in populations having a relatively old inbreeding history and where inbreeding levels have varied over time. This contention is tested with a series of 39,495 single-birth records from Bombay, India, collected...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00390435

    authors： Chakraborty R,Chakravarti A

    更新日期：1977-04-07 00:00:00

  • ASP--a simulation-based power calculator for genetic linkage studies of qualitative traits, using sib-pairs.

    abstract：:An easy-to-use, simulation-based power calculator (ASP) for linkage analysis using sib-pair designs (concordant or discordant) has been developed and made publicly available via the Internet. The program employs a diallelic model for the trait locus, at which parental/offspring genotypes are simulated, assuming Hardy-...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-001-0634-x

    authors： Krawczak M

    更新日期：2001-12-01 00:00:00

  • A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste).

    abstract：:During a survey of the mutations of the low density lipoprotein receptor (LDL-R) gene in Italian patients with familial hypercholesterolemia (FH), we identified a novel point mutation, that creates a new EcoRI site at the 5' end of exon 7, in a heterozygous FH subject (FH-100). The sequence of a cDNA fragment encompas...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00202819

    authors： Lelli N,Garuti R,Pedrazzi P,Ghisellini M,Simone ML,Tiozzo R,Cattin L,Valenti M,Rolleri M,Bertolini S

    更新日期：1994-05-01 00:00:00

  • Ancestry-specific polygenic scores and SNP heritability of 25(OH)D in African- and European-ancestry populations.

    abstract：:Vitamin D inadequacy, assessed by 25-hydroxyvitamin D [25(OH)D], affects around 50% of adults in the United States and is associated with numerous adverse health outcomes. Blood 25(OH)D concentrations are influenced by genetic factors that may determine how much vitamin D intake is required to reach optimal 25(OH)D. D...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-019-02049-x

    authors： Hatchell KE,Lu Q,Hebbring SJ,Michos ED,Wood AC,Engelman CD

    更新日期：2019-10-01 00:00:00

  • Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands.

    abstract：:This study reports the characterization of 60% of low density lipoprotein receptor (LDLR) gene mutations in 150 unrelated Greek familial hypercholesterolaemia (FH) heterozygous children by the analysis of six LDLR gene mutations. The linkage disequilibrium of two polymorphic microsatellites (D19S394 and D19S221) flank...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050703

    authors： Traeger-Synodinos J,Mavroidis N,Kanavakis E,Drogari E,Humphries SE,Day IN,Kattamis C,Matsaniotis N

    更新日期：1998-03-01 00:00:00

  • Lipoprotein lipase gene is in linkage with blood pressure phenotypes in Chinese pedigrees.

    abstract：:To elucidate the mechanism of lipid metabolism in the genesis of essential hypertension (EH), we linked blood pressure (BP) phenotypes with the lipoprotein lipase (LPL) gene. Variance component and sib-pair linkage models were used to test the relationship of the polymorphisms in the LPL gene region and EH in 148 Chin...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-004-1108-8

    authors： Yang W,Huang J,Ge D,Yao C,Duan X,Shen Y,Qiang B,Gu D

    更新日期：2004-06-01 00:00:00