An apparent discrepancy between chain length and electrophoretic mobility of restriction fragments: a case of human mitochondrial DNA.


:DNA sequence analysis and electrophoresis in denaturing gel revealed that a 60 base pair insertion which had been previously postulated on the basis of native polyacrylamide gel electrophoresis of mitochondrial DNA from Japanese (Horai and Matsunaga 1986) did not exist at all. Unusual behavior of certain restriction fragments in native polyacrylamide gels apparently resulted in what appeared to be an insertion. Further study revealed that this behavior is most likely due to secondary structures of the fragments. The results of the present study suggest that adequate care should be taken when assessing molecular weights of restriction fragments by native polyacrylamide gel electrophoresis.


Hum Genet


Human genetics


Horai S,Inoue T,Matsunaga E




Has Abstract


1987-01-01 00:00:00












  • Peculiarities of the GSTM1 0/0 genotype in French heavy smokers with various types of chronic bronchitis.

    abstract::A homozygous gene deletion of the glutathione S-transferase M1 (GSTM1) locus of genomic DNA from blood spots was studied by the polymerase chain reaction in a group of French heavy smokers (n = 361), which included patients with severe chronic bronchitis (SCB; n = 87), moderate chronic bronchitis (MCB: n = 102) and ha...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Baranova H,Perriot J,Albuisson E,Ivaschenko T,Baranov VS,Hemery B,Mouraire P,Riol N,Malet P

    更新日期:1997-06-01 00:00:00

  • Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity.

    abstract::Common variable immunodeficiency (CVID, OMIM 240500) and selective immunoglobulin A deficiency (IgAD) are the most frequent primary immunodeficiencies in humans. Of the cases with CVID/IgAD, 20%-25% are familial, but the only previous claims of linkage or association are to the HLA region on chromosome 6p. We report t...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Braig DU,Schäffer AA,Glocker E,Salzer U,Warnatz K,Peter HH,Grimbacher B

    更新日期:2003-04-01 00:00:00

  • Direct estimation of serological H-Y antigen by flow cytometry.

    abstract::This study was undertaken to evaluate the efficiency of flow cytometry in the detection of the serological H-Y antigen, and to survey expression of H-Y in the normal human population. Peripheral blood leukocytes (granulocytes) were reacted with monoclonal H-Y antibody, gw-16, and with FITC-conjugated goat anti-mouse I...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Kent M,Wachtel S,Thaler HT

    更新日期:1990-06-01 00:00:00

  • Inbreeding in recessive diseases.

    abstract::The consanguinity of parents (born in France) of individuals who have a recessive disease has been studied. The frequency of first cousin marriages is less than 0.2% in the general French population. Among the parents of affected individuals the following frequencies of first cousin matings were observed: cystic fibro...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Tchen P,Bois E,Feingold J,Feingold N,Kaplan J

    更新日期:1977-09-22 00:00:00

  • Intracellular phenylalanine and tyrosine concentrations in 19 heterozygotes for phenylketonuria (PKU) and 26 normals. Do the higher values in heterozygotes explain their lowered intellectual level?

    abstract::Intracellular phenylalanine and tyrosine was determined in lymphocytes of 10 heterozygotes (parents) for PKU and in 26 randomly collected apparently normal persons. In cells from the heterozygotes the concentrations of both phenylalanine and tyrosine were higher than in those from the normals, the difference being sta...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Thalhammer O,Lubec G,Königshofer H

    更新日期:1979-07-18 00:00:00

  • Genetic susceptibility to pre-eclampsia and chromosome 7q36.

    abstract::Pre-eclampsia is the most common serious medical disorder of human pregnancy. The human endothelial cell nitric oxide synthase (eNOS) gene is a candidate for pre-eclampsia/eclampsia (PE/E) susceptibility. A linkage study was performed on Australian PE/E families using 25 microsatellite markers from chromosome 7, one o...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Guo G,Lade JA,Wilton AN,Moses EK,Grehan M,Fu Y,Qiu H,Cooper DW,Brennecke SP

    更新日期:1999-12-01 00:00:00

  • Sex ratio of the mutation frequencies in haemophilia A: estimation and meta-analysis.

    abstract::A hereditary disease with excess mortality such as haemophilia is maintained in the population by the occurrence of new cases, i.e. mutations. In haemophilia, mutations may arise in female or male ancestors of a 'new' patient. The ratio of the mutation frequencies in males over females determines the prior risk of car...

    journal_title:Human genetics

    pub_type: 杂志文章,meta分析


    authors: Rosendaal FR,Bröcker-Vriends AH,van Houwelingen JC,Smit C,Varekamp I,van Dijck H,Suurmeijer TP,Vandenbroucke JP,Briët E

    更新日期:1990-12-01 00:00:00

  • Linkage between the loci for the Lp(a) lipoprotein (LP) and plasminogen (PLG).

    abstract::A locus, LP, that determines quantitative variation of Lp(a) lipoprotein phenotypes is linked to the plasminogen (PLG) locus (peak lod score = 12.73). This linkage relationship assigns a locus with alleles that have an affect on risk for coronary artery disease to the long arm of chromosome 6. ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Weitkamp LR,Guttormsen SA,Schultz JS

    更新日期:1988-05-01 00:00:00

  • Four new haplotypes observed in Algerian beta-thalassemia patients.

    abstract::beta-Thalassemia, a heterogeneous group of human anemias affecting the expression of beta-globin, is caused by a number of molecular defects. Restriction endonuclease mapping of ethnic populations has revealed many polymorphisms within and around the beta-like globin genes, combinations of which are assigned as haplot...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Beldjord C,Lapouméroulie C,Baird ML,Girot R,Adjrad L,Lenoir G,Benabadji M,Labie D

    更新日期:1983-01-01 00:00:00

  • A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia.

    abstract::Hair morphology is a highly divergent phenotype among human populations. We recently reported that a nonsynonymous SNP in the ectodysplasin A receptor (EDAR 1540T/C) is associated with head hair fiber thickness in an ethnic group in Thailand (Thai-Mai) and an Indonesian population. However, these Southeast Asian popul...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Fujimoto A,Ohashi J,Nishida N,Miyagawa T,Morishita Y,Tsunoda T,Kimura R,Tokunaga K

    更新日期:2008-09-01 00:00:00

  • Dinucleotide repeat in the 3' flanking region provides a clue to the molecular evolution of the Duffy gene.

    abstract::The Duffy blood group system consists of three alleles, FYA, FYB, and FY. To study the molecular evolution of the three alleles, we established the polymorphism of a dinucleotide (GT) repeat sequence (designated FyGT/C) in the 3' flanking region of the Duffy gene, and studied the relationship between FyGT/C and Duffy ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Li J,Iwamoto S,Sugimoto N,Okuda H,Kajii E

    更新日期:1997-05-01 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, 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


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

    更新日期:1988-05-01 00:00:00

  • Studies of the meiotic behavior of a translocation t(10;13)(q25;q11) in an oligospermic man.

    abstract::An new type of translocation, t(10;13)(q25;q11), is observed in a phenotypically normal male who was examined for subfertility. The meiotic behavior of the rearranged chromosomes indicates that crossing-over is very frequent in a rather small segment such as the short arm of chromosome 13 and constant in the distal ba...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Laurent C,Biemont MC,Cognat M,Dutrillaux B

    更新日期:1977-11-02 00:00:00

  • Interaction between obesity and genetic polymorphisms in the apolipoprotein CIII gene and lipoprotein lipase gene on the risk of hypertriglyceridemia in Chinese.

    abstract::To understand the effects of the interaction between genetic polymorphisms and obesity on the risk of hypertriglyceridemia (HTG), two polymorphisms, an SstI polymorphism on the apolipoprotein CIII gene and a HindIII polymorphism on the lipoprotein lipase gene, were analyzed in 339 Chinese subjects with (82 cases in th...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Ko YL,Ko YS,Wu SM,Teng MS,Chen FR,Hsu TS,Chiang CW,Lee YS

    更新日期:1997-09-01 00:00:00

  • Forensic use of Y-chromosome DNA: a general overview.

    abstract::The male-specific part of the human Y chromosome is widely used in forensic DNA analysis, particularly in cases where standard autosomal DNA profiling is not informative. A Y-chromosomal gene fragment is applied for inferring the biological sex of a crime scene trace donor. Haplotypes composed of Y-chromosomal short t...

    journal_title:Human genetics

    pub_type: 杂志文章,评审


    authors: Kayser M

    更新日期:2017-05-01 00:00:00

  • FTO influences on longitudinal BMI over childhood and adulthood and modulation on relationship between birth weight and longitudinal BMI.

    abstract::SNP rs9939609 within the fat mass and obesity associated gene (FTO) is strongly associated with adult body mass index (BMI). However, influences of FTO on longitudinal BMI change from childhood to adulthood have not been examined. Knowledge is limited on FTO, modulating the association between birth weight and longitu...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Mei H,Chen W,Srinivasan SR,Jiang F,Schork N,Murray S,Smith E,So JD,Berenson GS

    更新日期:2010-12-01 00:00:00

  • A sterile male with 45,X0 and a Y;22 translocation.

    abstract::Cytogenetic analysis of a 20-year-old sterile male revealed a 45,X0 karyotype with no evidence for Y-chromosomal material on any of the chromosomes analysed by Q-, G- and C-banding. DNA analysis with 17 different Y chromosome-derived probes revealed the presence of Yp DNA sequences in the patient's genome. In situ hyb...

    journal_title:Human genetics

    pub_type: 杂志文章,评审


    authors: Arnemann J,Schnittger S,Hinkel GK,Tolkendorf E,Schmidtke J,Hansmann I

    更新日期:1991-06-01 00:00:00

  • New mechanism of BRCA-1 mutation by deletion/insertion at the same nucleotide position in three unrelated French breast/ovarian cancer families.

    abstract::A novel complex mutation consisting of a small deletion/insertion (3958del5ins4) was found in the breast cancer-1 gene (BRCA-1) in three unrelated French breast and/or ovarian cancer families. These mutations occurred at the same nucleotide position of the 3' end of exon 11. The wild-type sequence, CTCAG, was deleted ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Presneau N,Laplace-Marieze V,Sylvain V,Lortholary A,Hardouin A,Bernard-Gallon D,Bignon YJ

    更新日期:1998-09-01 00:00:00

  • Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

    abstract::Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis-ptosis-intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Basel-Vanagaite L,Yilmaz R,Tang S,Reuter MS,Rahner N,Grange DK,Mortenson M,Koty P,Feenstra H,Farwell Gonzalez KD,Sticht H,Boddaert N,Désir J,Anyane-Yeboa K,Zweier C,Reis A,Kubisch C,Jewett T,Zeng W,Borck G

    更新日期:2014-07-01 00:00:00

  • C'3 polymorphism in Italy.

    abstract::C'3 phenotype and gene frequencies observed in two Italian samples are reported. The allele frequencies resemble those reported for other Caucasian populations. Five different rare variants are described. ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Scacchi R,Corbo RM,Spennati G,Palmarino R

    更新日期:1979-04-05 00:00:00

  • Localization of the intronless gene coding for calmodulin-like protein CLP to human chromosome 10p13-ter.

    abstract::The functional intronless gene coding for a calmodulin-like protein (CLP) has been localized to human chromosome 10p13-ter. Chromosomal assignment was performed by Southern blot analysis of DNA from human-rodent somatic cell hybrids and amplification of a CLP gene-specific 1090-bp DNA fragment by the polymerase chain ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Berchtold MW,Koller M,Egli R,Rhyner JA,Hameister H,Strehler EE

    更新日期:1993-01-01 00:00:00

  • Correction to: Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories.

    abstract::In the Original article published, the figure number 5: Genomic distribution of ROH is incorrectly published. The correct figure is given below. ...

    journal_title:Human genetics

    pub_type: 已发布勘误


    authors: Ceballos FC,Hazelhurst S,Ramsay M

    更新日期:2019-10-01 00:00:00

  • Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin.

    abstract::Primary open-angle glaucoma (POAG) is a leading cause of blindness in the world. A number of mutations in the myocilin gene have been identified that predispose to glaucoma. The most frequent of these is the Glutamine368STOP (Q368STOP) mutation. It has been postulated that individuals with the Q368STOP mutation are de...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Baird PN,Craig JE,Richardson AJ,Ring MA,Sim P,Stanwix S,Foote SJ,Mackey DA

    更新日期:2003-02-01 00:00:00

  • Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.

    abstract::Mutations in the genes coding for connexin 26 (Cx26) and connexin 31 (Cx31) cause non-syndromic deafness. Here, we provide evidence that mutations at these two connexin genes can interact to cause hearing loss in digenic heterozygotes in humans. We have screened 108 GJB2 heterozygous Chinese patients for mutations in ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Liu XZ,Yuan Y,Yan D,Ding EH,Ouyang XM,Fei Y,Tang W,Yuan H,Chang Q,Du LL,Zhang X,Wang G,Ahmad S,Kang DY,Lin X,Dai P

    更新日期:2009-02-01 00:00:00

  • Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22.

    abstract::The gene for superoxide dismutase-1 (SOD-1) is clearly on chromosome 21, although there is disagreement on the precise band location of SOD-1 on the long (q) arm of number 21. We report a patient with normal superoxide dismutase-1 (SOD-1) activity and an interstitial deletion of chromosome 21 resulting in monosomy for...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Wulfsberg EA,Carrel RE,Klisak IJ,O'Brien TJ,Sykes JA,Sparkes RS

    更新日期:1983-01-01 00:00:00

  • Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23.

    abstract::In the present paper an intercalary deletion of band 8q23 is reported in another patient with Langer-Giedion syndrome. These data confirm that the deletion in 8q responsible for this malformation syndrome is located at band 8q23. ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Fryns JP,Heremans G,Marien J,Van den Berghe H

    更新日期:1983-01-01 00:00:00

  • Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.

    abstract::We have previously identified a mutation in the gene for methylmalonyl CoA mutase in a patient with the mut- phenotype of methylmalonic aciduria. This mutation (G717V) interferes with the binding of the deoxyadenosylcobalamin cofactor to the apoenzyme producing a mutant holoenzyme that is defective, but not completely...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Crane AM,Martin LS,Valle D,Ledley FD

    更新日期:1992-05-01 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


    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

  • Types and subtypes of haptoglobin in the Chinese population.

    abstract::Haptoglobin phenotypes of 1121 unrelated Chinese blood donors in Beijing were determined. The gene frequency of Hp1 was 0.270. A rare variant, which we identified as Hp1S-J, was found. Two hundred and two samples of this population were submitted to haptoglobin subtyping, and no Hp1F allele was found among them. ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Liang CC,Qi ZB,Ying QL,Wang LF

    更新日期:1983-01-01 00:00:00

  • Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families.

    abstract::A novel procedure is presented to estimate the ratio of male to female mutation rates for Duchenne muscular dystrophy (DMD). X-specific restriction fragment length polymorphisms are used to establish DNA haplotypes in three-generation DMD families. From the proportion of DMD patients who have inherited their maternal ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Müller CR,Grimm T

    更新日期:1986-10-01 00:00:00