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

abstract：:The Prader-Willi syndrome (PWS) is a developmental disorder caused by a deficiency of paternal contributions, arising from differently sized deletions, uniparental disomy or rare imprinting mutations, in the chromosome region 15q11-q13. We studied 41 patients with suspected PWS and their parents using cytogenetic and ...

journal_title：Human genetics

authors： Kokkonen H,Kähkönen M,Leisti J

更新日期：1995-05-01 00:00:00

abstract：:The precise chromosomal localization of the gene for dentatorubral-pallidoluysian atrophy (DRPLA) was detected by deletion mapping. Segregation patterns of genotypes of polymerase chain reaction products of DRPLA, von Willebrand factor (F8vWF), antigen CD4(p55) (CD4) and parathyroid hormone-like hormone (PTHLH) loci w...

journal_title：Human genetics

authors： Kuwano A,Morimoto Y,Nagai T,Fukushima Y,Ohashi H,Hasegawa T,Kondo I

更新日期：1996-01-01 00:00:00

abstract：:Seven patients are described who have some or all of the symptoms of Prader-Willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The chromosome abnormal...

journal_title：Human genetics

authors： Fraccaro M,Zuffardi O,Bühler E,Schinzel A,Simoni G,Witkowski R,Bonifaci E,Caufin D,Cignacco G,Delendi N

更新日期：1983-01-01 00:00:00

abstract：:Segregation analysis was performed in three families affected in X-linked agammaglobulinemia (XLA) with five polymorphic DNA probes linked to the disease locus. In agreement with previous studies, no recombination was observed with either pXG12 (DXS94) or S21 (DXS17). Segregation analysis was also performed with a mar...

journal_title：Human genetics

authors： Guioli S,Arveiler B,Bardoni B,Notarangelo LD,Panina P,Duse M,Ugazio A,Oberlé I,de Saint Basile G,Mandel JL

更新日期：1989-12-01 00:00:00

abstract：:Schwannomas may develop sporadically or in association with NF2 and schwannomatosis. The fundamental aberration in schwannomas is the bi-allelic inactivation of the NF2 gene. However, clinical and molecular data suggest that these tumors share a common pathogenetic mechanism related to as yet undefined 22q-loci. Linka...

journal_title：Human genetics

authors： Díaz de Ståhl T,Hansson CM,de Bustos C,Mantripragada KK,Piotrowski A,Benetkiewicz M,Jarbo C,Wiklund L,Mathiesen T,Nyberg G,Collins VP,Evans DG,Ichimura K,Dumanski JP

更新日期：2005-10-01 00:00:00

abstract：:We investigated whether the amount of circulating cell-free fetal DNA in maternal serum is influenced by fetal karyotype, using real-time quantitative polymerase chain reaction assay. Serum samples were obtained from pregnant women at gestational ages ranging from 15 to 17 weeks, prior to their undergoing amniocentesi...

journal_title：Human genetics

authors： Ohashi Y,Miharu N,Honda H,Samura O,Ohama K

更新日期：2001-02-01 00:00:00

abstract：:The WT1 gene is normally expressed during gonadal development and specific mutations in heterozygous form cause Drash syndrome, characterized by male pseudohermaphroditism and gonadal dysgenesis, renal failure and a predisposition for Wilms' tumour. These observations prompted us to test whether WT1 mutations are invo...

journal_title：Human genetics

authors： Nordenskjöld A,Fricke G,Anvret M

更新日期：1995-07-01 00:00:00

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

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

abstract：:Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 kb. Seven children with...

journal_title：Human genetics

authors： Crotty PL,Whitley CB

更新日期：1992-11-01 00:00:00

abstract：:We report a missense mutation in an adult Japanese patient with acid alpha-glucosidase (GAA) deficiency. A TC to GT transition at nucleotides 1585-1586, was identified. This transition resulted in an amino acid substitution of Ser-529 to Val (S529V) in exon 11. We also have demonstrated that the S529V mutation abolish...

journal_title：Human genetics

authors： Tsunoda H,Ohshima T,Tohyama J,Sasaki M,Sakuragawa N,Martiniuk F

更新日期：1996-04-01 00:00:00

abstract：:The cellular origin of trisomy 7 in non-neoplastic kidney tissue specimens from 10 patients, seven with malignant tumors and three with non-neoplastic kidney diseases, was studied by the MAC (morphology antibody chromosomes) technique, which allows analysis of cellular morphology/histology, immunophenotype, and chromo...

journal_title：Human genetics

authors： Knuutila S,Larramendy ML,Elfving P,el-Rifai W,Miettinen A,Mitelman F

更新日期：1995-02-01 00:00:00

abstract：:Inherited dilated cardiomyopathy (DCM) is a genetically and phenotypically very heterogeneous disease. DCM is caused by mutations in multiple genes encoding proteins that are involved in force generation, force transmission, energy production and several signalling pathways. Thus, the pathophysiology of heart failure ...

journal_title：Human genetics

authors： Schönberger J,Kühler L,Martins E,Lindner TH,Silva-Cardoso J,Zimmer M

更新日期：2005-12-01 00:00:00

abstract：:Southern African Bantu-speaking negroid and San populations were examined with regard to the glucose-6-phosphate dehydrogenase (G6PD) PvuII restriction fragment length polymorphism (RFLP) showing alleles of 4 kb and 1.6 kb, called Type 1 and Type 2, respectively. The standardized disequilibrium coefficient for the ele...

journal_title：Human genetics

authors： Coetzee MJ,Bartleet SC,Ramsay M,Jenkins T

更新日期：1992-04-01 00:00:00

abstract：:As evidenced by a large pedigree with 21 affected members, acrokeratoelastoidosis (AKE) is an autosomal dominant skin disease (10185; McKusick 1978). Linkage with genetic markers already assigned to human chromosomes could help to map the gene for this disease. Therefore 22 markers were investigated in 61 members of t...

journal_title：Human genetics

authors： Greiner J,Krüger J,Palden L,Jung EG,Vogel F

更新日期：1983-01-01 00:00:00

abstract：:A reciprocal translocation involving chromosomes Nos. 3 and 22 has been found in a patient with seemingly Ph-negative chronic myelogenous leukemia (CML). G-band analysis revealed, that deletion in No. 22 occurred at the same point, as in the typical cases of the disease. It was concluded, that breakage in No. 22 at a ...

journal_title：Human genetics

authors： Pravtcheva D,Andreeva P,Tsaneva R

更新日期：1976-05-19 00:00:00

abstract：:A series of 195 random chromosome 22-specific probes, equivalent to approximately 1% of the size of this chromosome, have been isolated from a chromosome 22-specific bacteriophage lambda genomic library. These probes were mapped to four different regions of chromosome 22 on a panel of five somatic cell hybrids. Restri...

journal_title：Human genetics

authors： Dumanski JP,Geurts van Kessel AH,Ruttledge M,Wladis A,Sugawa N,Collins VP,Nordenskjöld M

更新日期：1990-02-01 00:00:00

abstract：:A Taq1 polymorphism, located in intron 4 of the faciogenital dysplasia (FGD1) gene, the gene responsible for Aarskog syndrome, is described. FGD1 encodes a putative Rho/Rac guanine nucleotide exchange factor involved in mammalian morphogenesis. The identification of an intragenic polymorphism will facilitate the accur...

journal_title：Human genetics

authors： Pasteris NG,Gorski JL

更新日期：1995-10-01 00:00:00

abstract：:A specific enzyme immunoassay of uroporphyrinogen decarboxylase was developed and applied to the detection of the human enzyme in man-rodent somatic cell hybrids. This method allowed to assign the gene for uroporphyrinogen decarboxylase to human chromosome 1. ...

journal_title：Human genetics

authors： de Verneuil H,Grandchamp B,Foubert C,Weil D,N'Guyen VC,Gross MS,Sassa S,Nordmann Y

更新日期：1984-01-01 00:00:00

abstract：:In order to map the gene that is responsible for the DNA-repair defect in severe combined immune deficient (SCID) mice, a mixture of microcells independently isolated from mouse A9 cells containing pSV2neo-tagged human chromosomes 5, 7, 8, 9, 11, 15, 18 or 20 were fused with SCID fibroblast cell lines SCVA2 and SCVA4,...

journal_title：Human genetics

authors： Kurimasa A,Nagata Y,Shimizu M,Emi M,Nakamura Y,Oshimura M

更新日期：1994-01-01 00:00:00

abstract：:A single base substitution is responsible for the PI-Z mutation in alpha-1-antitrypsin (AAT) deficiency. The Z mutation, which is in exon V of the AAT gene, was analysed directly using a primer designed with a single base substitution in the DNA sequence. During the polymerase chain reaction with this primer, a restri...

journal_title：Human genetics

authors： Dry PJ

更新日期：1991-10-01 00:00:00

abstract：:By screening patients with autosomal dominant retinitis pigmentosa for mutations in the rhodopsin gene, two deletions (8 bp and 1 bp) have been identified in exon 5; these deletions cause a shift in the reading frame. The predicted proteins should be radically altered with translation continuing past the normal stop s...

journal_title：Human genetics

authors： Horn M,Humphries P,Kunisch M,Marchese C,Apfelstedt-Sylla E,Fugi L,Zrenner E,Kenna P,Gal A,Farrar J

更新日期：1992-11-01 00:00:00

abstract：:This paper presents some characteristics of the population genetics of primary congenital glaucoma in Slovakia. The overall incidence in Slovakia is 1:10,500, while being 1:1,250 in the Gypsy subpopulation of Slovakia and 1:22,000 in the non-Gypsy population. For a special type of congenital primary glaucoma, transmit...

journal_title：Human genetics

authors： Gencik A,Gencikova A,Ferák V

更新日期：1982-01-01 00:00:00

abstract：:This paper summarizes previous chromosomal studies in patients with the Cornelia de Lange syndrome showing abnormal karyotypes. We report on 45 cases of the Cornelia de Lange syndrome clinically examined by one of us (B.B.) and chromosomally studied using several different methods. Two abnormal karyotypes were found: ...

journal_title：Human genetics

authors： Beck B,Mikkelsen M

更新日期：1981-01-01 00:00:00

abstract：:X-linked congenital adrenal hypoplasia (AHC) is a developmental disorder of the human adrenal gland that results in profound hormonal deficiencies, which are lethal if untreated. Hypogonadotropic hypogonadism (HHG) is frequently associated with this disorder. The gene (DAX-1) responsible for the disease has recently b...

journal_title：Human genetics

authors： Schwartz M,Blichfeldt S,Müller J

更新日期：1997-01-01 00:00:00

abstract：:Birth weight has been shown to be associated with obesity and metabolic diseases in adulthood, however, the genetic contribution is still controversial. The objective of this analysis is to explore the genetic contribution to the relationship between birth weight and later risk for obesity and metabolic diseases in Hi...

journal_title：Human genetics

authors： Cai G,Cole SA,Haack K,Butte NF,Comuzzie AG

更新日期：2007-07-01 00:00:00

abstract：:A 21-year-old girl with classical Prader-Willi Syndrome was found to have a 14;15 Robertsonian translocation--45,XX,t(14;15)(p11;q11). This type of Robertsonian translocation was not found in any patient from 8 surveys covering 6144 patients with mental retardation. Chromosome 15 has been involved in translocations in...

journal_title：Human genetics

authors： Smith A,Noel M

更新日期：1980-01-01 00:00:00

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

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

更新日期：1995-09-01 00:00:00

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

authors： Schneider H,Salzano FM

更新日期：1979-01-01 00:00:00

abstract：:The selective staining of a single butyrylesterase, following isoelectric focusing of red cell lysates from 14 mammalian species, including man, was achieved using the chromogenic substrate N-acetyl-L-alanine-alpha-naphthyl ester. This procedure optimized the identification of this enzyme, and a close correspondence o...

journal_title：Human genetics

authors： von Deimling O,de Looze S

更新日期：1983-01-01 00:00:00

abstract：:Cerebrovascular and cardiovascular diseases are the leading causes of death and disability worldwide. They are complex disorders resulting from the interplay of genetic and environmental factors, and may share several susceptibility genes. Several recent studies have implicated variants of the Kalirin (KALRN) gene wit...

journal_title：Human genetics

authors： Krug T,Manso H,Gouveia L,Sobral J,Xavier JM,Albergaria I,Gaspar G,Correia M,Viana-Baptista M,Simões RM,Pinto AN,Taipa R,Ferreira C,Fontes JR,Silva MR,Gabriel JP,Matos I,Lopes G,Ferro JM,Vicente AM,Oliveira SA

更新日期：2010-03-01 00:00:00