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












  • 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

  • A non-alphoid repetitive DNA sequence from human chromosome 21.

    abstract::A non-alphoid repetitive DNA from human chromosome 22, consisting of a 48-bp motif, shows homology to both G-group chromosomes in the gorilla, thus indicating the presence of additional repeat family members on further human chromosomes. Therefore, we screened a chromosome-21-specific cosmid library using this repetit...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Müllenbach R,Lutz S,Holzmann K,Dooley S,Blin N

    更新日期:1992-07-01 00:00:00

  • On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

    abstract::Galactosemia is an inborn error of galactose metabolism secondary to deficiency of galactose-1-phosphate uridyl transferase (GALT). GALT is a polymorphic enzyme and Duarte (D) is the most common enzyme variant. This variant is characterized by faster electrophoretic mobility and reduced activity. Duarte/galactosemia c...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Lin HC,Kirby LT,Ng WG,Reichardt JK

    更新日期:1994-02-01 00:00:00

  • Beta-thalassemia and beta[A] globin gene haplotypes in Mexican mestizos.

    abstract::B-globin haplotypes of 20 beta-thalassemia (beta-thal) and 87 beta(A) Mexican mestizo chromosomes were analyzed to ascertain the origin of the beta-thal alleles and the frequencies and distribution of the beta(A) haplotypes among northwestern Mexican mestizos. Sixteen beta-thal chromosomes carried six Mediterranean al...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Villalobos-Arámbula AR,Bustos R,Casas-Castañeda M,Gutiérrez E,Perea FJ,Thein SL,Ibarra B

    更新日期:1997-04-01 00:00:00

  • Characterization of mitochondrial haplogroups in a large population-based sample from the United States.

    abstract::Mitochondrial DNA (mtDNA) haplogroups are valuable for investigations in forensic science, molecular anthropology, and human genetics. In this study, we developed a custom panel of 61 mtDNA markers for high-throughput classification of European, African, and Native American/Asian mitochondrial haplogroup lineages. Usi...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Mitchell SL,Goodloe R,Brown-Gentry K,Pendergrass SA,Murdock DG,Crawford DC

    更新日期:2014-07-01 00:00:00

  • Pairing of X and Y chromosomes, non-inactivation of X-linked genes, and the maleness factor.

    abstract::In this paper observations are summarized and speculations discussed, and it is suggested that some loci on the distal short arm of the X chromosome (Xp) are not randomly inactivated in the female, because they are within the proximal part of the pairing segment between Xp and Yp. This peculiarity of gene expression m...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Polani PE

    更新日期:1982-01-01 00:00:00

  • Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.

    abstract::Citrullinemia is an autosomal recessive disorder caused by a genetic deficiency of argininosuccinate synthetase (ASS). So far 20 mutations in ASS mRNA have been identified in human classical citrullinemia, including 14 single base changes causing missense mutations in the coding sequence of the enzyme, 4 mutations ass...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Kobayashi K,Kakinoki H,Fukushige T,Shaheen N,Terazono H,Saheki T

    更新日期:1995-10-01 00:00:00

  • Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13: report of three cases.

    abstract::Three cases of partial trisomy for the distal segment of chromosome 13 are reported. Common clinical features included normal birth weight, postnatal asphyxia, convulsions, severe psychomotor retardation, normal growth, and a distinct pattern of dysmorphias consisting of trigonocephalic head with prominent metopic sut...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Schinzel A,Hayashi K,Schmid W

    更新日期:1976-04-15 00:00:00

  • Comprehensive multi-stage linkage analyses identify a locus for adult height on chromosome 3p in a healthy Caucasian population.

    abstract::There have been a number of genome-wide linkage studies for adult height in recent years. These studies have yielded few well-replicated loci, and none have been further confirmed by the identification of associated gene variants. The inconsistent results may be attributable to the fact that few studies have combined ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Ellis JA,Scurrah KJ,Duncan AE,Lamantia A,Byrnes GB,Harrap SB

    更新日期:2007-04-01 00:00:00

  • Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4).

    abstract::The majority of constitutional reciprocal translocations appear to be unique rearrangements arising from independent events. However, a small number of translocations are recurrent, most significantly the t(11;22)(q23;q11). Among large series of translocations there may be multiple independently ascertained cases with...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Thomas NS,Maloney V,Bryant V,Huang S,Brewer C,Lachlan K,Jacobs PA

    更新日期:2009-03-01 00:00:00

  • pH-dependent association-dissociation of high and low activity plasma alpha-L-fucosidase.

    abstract::Population and family studies have confirmed the existence of a plasma alpha-L-fucosidase polymorphism in humans and the autosomal recessive inheritance of the low activity trait. The frequency of the latter is estimated at 11%. The low activity individuals or variants can also be distinguished by the fact that their ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Willems PJ,Romeo E,Den Tandt WR,Van Elsen AF,Leroy JG

    更新日期:1981-01-01 00:00:00

  • Sublocalization of von Willebrand factor pseudogene to 22q11.22-q11.23 by in situ hybridization in a 46,X,t(X;22)(pter;q11.21) translocation.

    abstract::The von Willebrand factor pseudogene, previously mapped to chromosome 22, was sublocalized by in situ hybridization using as probe a von Willebrand factor cDNA fragment completely contained in the pseudogenic region. Chromosome spreads were from a patient carrying a unique balanced de novo translocation 46,X,t(X;22)(p...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Patracchini P,Calzolari E,Aiello V,Palazzi P,Banin P,Marchetti G,Bernardi F

    更新日期:1989-10-01 00:00:00

  • Techniques for estimating genetic admixture and applications to the problem of the origin of the Icelanders and the Ashkenazi Jews.

    abstract::A method is introduced for simultaneously using multiple loci to estimate admixture and test goodness of fit of the model of admixture. Deviation of observed frequencies from expectation caused by sources of error such as sampling and/or drift is allowed for all loci in all populations. This allows investigation of th...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Wijsman EM

    更新日期:1984-01-01 00:00:00

  • Genetic liability to schizophrenia in Oceanic Palau: a search in the affected and maternal generation.

    abstract::While liability to schizophrenia (Scz) is due to genetic and environmental factors, specific factors are largely unknown. We postulate a two-hit model for Scz, in which initial liability is generated during fetal brain development: this "hit" is precipitated by environmental stressors biologically interacting with mat...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Devlin B,Klei L,Myles-Worsley M,Tiobech J,Otto C,Byerley W,Roeder K

    更新日期:2007-07-01 00:00:00

  • Analysis of segregation and expression of an identified mutation at the neurofibromatosis type 1 locus.

    abstract::A previously identified complex mutation, affecting exon 28 of the neurofibromatosis type 1 gene, was employed for the analysis of the expression pattern in primary cultures of neurofibroma cells and melanocytes from a café-au-lait macule of the patient, respectively. Reverse transcription and subsequent polymerase ch...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Stark M,Assum G,Kaufmann D,Kehrer H,Krone W

    更新日期:1992-12-01 00:00:00

  • Two intragenic polymorphisms of the APC-gene detected by PCR and enzymatic digestion.

    abstract::The gene causing adenomatous polyposis coli (APC) has recently been cloned. Three intragenic polymorphisms were reported to be detectable by single-strand conformation polymorphism analysis. Here, we describe an assay using polymerase-chain-reaction-based amplification and subsequent enzymatic digestion of genomic seq...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Kraus C,Ballhausen WG

    更新日期:1992-03-01 00:00:00

  • Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene.

    abstract::We describe two polymorphic microsatellites in intron 27 of the neurofibromatosis type 1 (NF1) gene. The microsatellites consist of TG/AC and AC/TG dinucleotide repeats detecting five and seven alleles and with heterozygosities of 0.46 and 0.72, respectively. These microsatellites are useful tools both for direct and ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Lázaro C,Gaona A,Estivill X

    更新日期:1994-03-01 00:00:00

  • 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


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

    更新日期:1987-10-01 00:00:00

  • A haplotype at chromosome Xq27.2 confers susceptibility to prostate cancer.

    abstract::We conducted an association study to identify risk variants for familial prostate cancer within the HPCX locus at Xq27 among Americans of Northern European descent. We investigated a total of 507 familial prostate cancer probands and 507 age-matched controls without a personal or family history of prostate cancer. The...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Yaspan BL,McReynolds KM,Elmore JB,Breyer JP,Bradley KM,Smith JR

    更新日期:2008-05-01 00:00:00

  • Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria.

    abstract::The frequency of alleles for intragenic (intron 17 and intron 25) and extragenic (DXS15 and DXS52) F8C RFLPs was investigated in the Algerian population. Altogether 287 X chromosomes (97 males and 95 females) were studied. The allele frequencies found with the two intragenic F8C RFLPs were not substantially different ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Nafa K,Meriane F,Reghis A,Benabadji M,Demenais F,Guilloud-Bataille M,Sultan Y,Kaplan JC,Delpech M

    更新日期:1990-04-01 00:00:00

  • Chromosome abnormalities and clinical and morphologic manifestations of chronic myeloid leukemia.

    abstract::Forty cases of chronic myeloid leukemia (CML) were studied and subgroups of cases with similar chromosomal abnormalities in terminal stage were defined. Certain correlations were observed between the type of chromosomal changes, and clinical and morphologic manifestations of the disease: (1) It seems that, in cases wi...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Prigogina EL,Fleischman EW,Volkova MA,Frenkel MA

    更新日期:1978-03-17 00:00:00

  • A splicing mutation in RB1 in low penetrance retinoblastoma.

    abstract::The pediatric eye-tumor retinoblastoma is widely held as a paradigm of human cancer genetics and has been a model system for both the two-hit hypothesis of dominantly inherited cancer as well as for the concept of tumor-specific loss of constitutional heterozygosity to achieve expression of the tumorigenic phenotype. ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Schubert EL,Strong LC,Hansen MF

    更新日期:1997-10-01 00:00:00

  • Characteristic chromosomal fragility of human embryonic cells exposed in vitro to aphidicolin.

    abstract::The frequency and distribution of aphidicolin (APC)-induced common fragile sites (cfs) were analyzed in human embryonic cells of different origins. Embryonic lung fibroblasts (MRC-5), amniocytes (AMINO) and embryonic retina cells (HERO790) are as sensitive to the APC-induced clastogenic effect as peripheral lymphocyte...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Caporossi D,Vernole P,Nicoletti B,Tedeschi B

    更新日期:1995-09-01 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

  • Gm allotypes and racial admixture in two Brazilian populations.

    abstract::The Gm types of 515 inhabitants of Belém and 395 inhabitants of Porto Alegre, Brazil were studied in an attempt to quantitatively estimate ethnic parental contributions. The people from Belém can be characterized as 24% black, 22% Indian, and 54% Caucasian. The Porto Alegre blacks seem to have inherited as much as 53%...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Schneider H,Salzano FM

    更新日期:1979-01-01 00:00:00

  • Esterase D polymorphism in a French-Canadian population.

    abstract::Red blood cell esterase D (ESD) polymorphism was studied in a French-Canadian population from Quebec city, Canada, by means of high voltage electrophoresis on agarose gel followed, in heterozygotes for ESD 1, by IEF to reveal the possible allele ESD*5. Frequencies of the ESD alleles in 904 unrelated individuals were E...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Couture L,Chagnon M,Allard C,Bouchard C

    更新日期:1986-07-01 00:00:00

  • Demonstration of astrocytes in cultured amniotic fluid cells of three cases with neural-tube defect.

    abstract::We have investigated the origin of rapidly adhering (RA) cells in three cases of neural tube defects (two anencephali, one encephalocele). We were able to demonstrate the presence of glial fibrillary acidic (GFA) protein in variable percentages (4--80%) of RA cells cultured for 4--6 days by use of indirect immunofluor...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Cremer M,Schachner M,Cremer T,Schmidt W,Voigtländer T

    更新日期:1981-01-01 00:00:00

  • Two novel frameshift mutations in the low density lipoprotein receptor gene generated by endogenous sequence-directed mechanisms.

    abstract::DNA samples from 60 unrelated Belgian hypercholesterolemic patients were subjected to heteroduplex analysis of exon 4 of the low density lipoprotein receptor (LDLR) gene. Aberrant mobility bands were detected in 2 patients and the underlying mutations were characterized by DNA sequence analysis. Both mutations, a 19-b...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Peeters AV,Van Gaal LF,Theart L,Langenhoven E,Kotze MJ

    更新日期:1995-10-01 00:00:00

  • Logistic regression model to estimate the risk of unbalanced offspring in reciprocal translocations.

    abstract::The aim of this study was to estimate the risk of viable unbalanced offspring for a parental carrier of reciprocal translocation. On a large computerized database of reciprocal translocations we used logistic regression to model this risk. The status of the progeny is the outcome variable. Explanatory covariates are c...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Cans C,Cohen O,Lavergne C,Mermet MA,Demongeot J,Jalbert P

    更新日期:1993-12-01 00:00:00

  • Comparison of expression of the fragile site at Xq27 in T and B lymphocytes.

    abstract::We compared the fragile X (fraX) expression in T and B lymphocytes from four hemizygous males with fraX. Blood cultures were stimulated with a T cell mitogen (phytohemagglutinin:PHA) and with a B cell mitogen (pokeweed mitogen:PWM). A significant decrease in fraX expression was observed in cultures stimulated with PWM...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Marchese CA,Lin MS,Wilson MG

    更新日期:1984-01-01 00:00:00