Residual linkage: why do linkage peaks not disappear after an association study?

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

authors： Müller CR,Grimm T

更新日期：1986-10-01 00:00:00

abstract：:In the present study, the possible role of genetic polymorphism of three drug-metabolizing enzymes, debrisoquine/sparteine hydroxylase (CYP2D6), glutathione S-transferase mu (GSTM1), and N-acetyltransferase (NAT2), as a putative genetic component of human longevity, was explored. A total of 817 DNA samples from a cent...

journal_title：Human genetics

authors： Muiras ML,Verasdonck P,Cottet F,Schächter F

更新日期：1998-05-01 00:00:00

abstract：:Primary immunodeficiencies (PIDs) comprise a diverse group of over 400 genetic disorders that result in clinically apparent immune dysfunction. Although PIDs are classically considered as Mendelian disorders with complete penetrance, we now understand that absent or partial clinical disease is often noted in individua...

journal_title：Human genetics

authors： Gruber C,Bogunovic D

更新日期：2020-06-01 00:00:00

abstract：:Recently, a mutation at nucleotide 1193 of the glucocerebrosidase gene was described in a patient with type 1 Gaucher disease. This mutation destroys a TaqI site in a polymerase chain reaction (PCR)-amplified fragment. We used digestion with this enzyme to screen DNA samples from Gaucher disease patients representing ...

journal_title：Human genetics

authors： Beutler E,Gelbart T

更新日期：1994-02-01 00:00:00

abstract：:EagI and NotI linking libraries were prepared in the lambda vector, EMBL5, from the mouse-human somatic cell hybrid 1W1LA4.9, which contains human chromosomes 11 and Xp as the only human component. Individual clones containing human DNA were isolated by their ability to hybridise with total human DNA and digested with...

journal_title：Human genetics

authors： Pook MA,Thakrar R,Pottinger B,Harding B,Porteous D,van Heyningen V,Cowell J,Jones C,Povey S,Davies KE,Thakker RV

更新日期：1996-06-01 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：:Li-Fraumeni syndrome (LFS) is characterized by a high risk of sarcomas, early onset of breast cancer, and a diversity of other cancers occurring as multiple primary tumors in multiple family members. In many families with LFS, germline mutations within the tumor-suppressor gene p53 have been identified. However, mutat...

journal_title：Human genetics

authors： Evans SC,Mims B,McMasters KM,Foster CJ,deAndrade M,Amos CI,Strong LC,Lozano G

更新日期：1998-06-01 00:00:00

abstract：:Fluorescence in situ hybridization analysis was performed to characterize a complex pericentric inversion involving chromosome 5 in a mother and son. The mother had hypertelorism, epicanthal folds, and mild mental deficiency while the son had additional anomalies that have been observed in patients with cri-du-chat sy...

journal_title：Human genetics

authors： Goodart SA,Butler MG,Overhauser J

更新日期：1996-06-01 00:00:00

abstract：:Tay-Sachs disease (TSD) is an inherited neurodegenerative ganglioside storage disorder caused by deficiency of the hexosaminidase A enzyme. A deletion allele (FCD) at the HEXA locus has attained high frequency in the French Canadian population. The distribution of affected probands shows a likely center of diffusion f...

journal_title：Human genetics

authors： De Braekeleer M,Hechtman P,Andermann E,Kaplan F

更新日期：1992-04-01 00:00:00

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

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

abstract：:Meiotic segregation of chromosomes 14 and 21 in sperm from a 14;21 Robertsonian translocation carrier was analyzed with dual-color FISH using two locus-specific DNA probes (Tel 14q and LSI 21). The frequency of normal or chromosomally balanced sperm, resulting from alternate segregation, was 88.42%. The frequency of u...

journal_title：Human genetics

authors： Honda H,Miharu N,Samura O,He H,Ohama K

更新日期：2000-02-01 00:00:00

abstract：:We present a simple rapid reproducible polymerase chain reaction based technique, termed amplified product length polymorphism (APLP), as a new strategy for primer design for ABO genotyping. The method involves the use of primers differing in length and permits the identification of the major ABO genotypes (A1, A2, B,...

journal_title：Human genetics

authors： Watanabe G,Umetsu K,Yuasa I,Suzuki T

更新日期：1997-01-01 00:00:00

abstract：:Dense sets of hundreds of thousands of markers have been developed for genome-wide association studies. These marker sets are also beneficial for linkage analysis of large, deep pedigrees containing distantly related cases. It is impossible to analyse jointly all genotypes in large pedigrees using the Lander-Green Alg...

journal_title：Human genetics

authors： Thomson R,Quinn S,McKay J,Silver J,Bahlo M,FitzGerald L,Foote S,Dickinson J,Stankovich J

更新日期：2007-05-01 00:00:00

abstract：:A 45,X male individual was shown to have a translocation of Y-chromosome material to the short arm or proximal long arm of chromosome 15. This translocation was detected by genomic DNA blotting and in situ hybridization with Y-chromosome-specific DNA probes. ...

journal_title：Human genetics

authors： Disteche CM,Brown L,Saal H,Friedman C,Thuline HC,Hoar DI,Pagon RA,Page DC

更新日期：1986-12-01 00:00:00

abstract：:TransferrinC (TfC) subtypes were determined by isoelectric focusing (PAGIF) on samples from 90 carriers of the TFB and TfD alleles. In all cases of CB and CD heterozygotes only one of the two common subtypes of the TfC allele, TfC1 or TfC2, was observed. This is considered strong support for the hypothesis of two comm...

journal_title：Human genetics

authors： Kühnl P,Spielmann W,Weber W

更新日期：1979-01-19 00:00:00

abstract：:Two new cases of ring chromosome 15 are reported. A review of the nine cases described in the literature shows that ring chromosomes 15 are associated with a rather uniform phenotype characterized by slight to moderate mental retardation, marked pre- and postnatal growth failure, triangular face, and short hands and f...

journal_title：Human genetics

authors： Fryns JP,Timmermans J,Hondt FD,François B,Emmery L,van den Berghe H

更新日期：1979-09-02 00:00:00

abstract：:A method is described that permits the generation of four isolated blastomeres after embryo splitting of murine four-cell eggs and the subsequent chromosomal analysis of one of the obtained 1/4-blastomeres. According to the karyograms obtained, embryos can be selected for reimplantation and furthermore triplicated via...

journal_title：Human genetics

authors： Bacchus C,Buselmaier W

更新日期：1988-12-01 00:00:00

abstract：:Fragile sites are nonrandom, heritable sites on chromosomes that can be induced to form gaps, breaks, and rearrangements under specific conditions. There is currently no established criterion to define a common fragile site. We applied seven published criteria to our data from three groups of subjects: (1) three pairs...

journal_title：Human genetics

authors： Jordan DK,Burns TL,Divelbiss JE,Woolson RF,Patil SR

更新日期：1990-10-01 00:00:00

abstract：:Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY females with ovarian gonadal differentiation and typical clinical features of campomelic dysplasia could be tested for H-Y antigen and were found to ...

journal_title：Human genetics

authors： Bricarelli FD,Fraccaro M,Lindsten J,Müller U,Baggio P,Carbone LD,Hjerpe A,Lindgren F,Mayerová A,Ringertz H,Ritzén EM,Rovetta DC,Sicchero C,Wolf U

更新日期：1981-01-01 00:00:00

abstract：:While it is widely appreciated that prostate cancers vary substantially in their propensity to progress to a life-threatening stage, the molecular events responsible for this progression have not been identified. Understanding these molecular mechanisms could provide important prognostic information relevant to more e...

journal_title：Human genetics

authors： Schaid DJ,McDonnell SK,Zarfas KE,Cunningham JM,Hebbring S,Thibodeau SN,Eeles RA,Easton DF,Foulkes WD,Simard J,Giles GG,Hopper JL,Mahle L,Moller P,Badzioch M,Bishop DT,Evans C,Edwards S,Meitz J,Bullock S,Hope Q,G

更新日期：2006-11-01 00:00:00

abstract：:A method is described for large scale routine phenotyping of haptoglobin (Hp) which allows complete subtyping without prior purification of the Hp molecule. The procedure includes polyacrylamide gel isoelectric focusing of reduced, neuraminidase treated serum or plasma samples, and nitrocellulose blots developed with ...

journal_title：Human genetics

authors： Teige B,Olaisen B,Pedersen L

更新日期：1985-01-01 00:00:00

abstract：:The sex-chromosomal origin of the ring chromosome in a pre-pubertal non-virilized female patient presenting with a 45,X/46,X,r(?) karyotype could not be resolved by conventional cytogenetic (including G11) methods. Non-autoradiographic in situ hybridization of biotinylated X and Y centromere-specific alphoid repetitiv...

journal_title：Human genetics

authors： Crolla JA,Llerena JC Jr

更新日期：1988-12-01 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：:Nitric oxide (NO) mediates host resistance to severe malaria and other infectious diseases. NO production and mononuclear cell expression of the NO producing enzyme-inducible nitric oxide synthase (NOS2) have been associated with protection from severe falciparum malaria. The purpose of this study was to identify sing...

journal_title：Human genetics

authors： Levesque MC,Hobbs MR,O'Loughlin CW,Chancellor JA,Chen Y,Tkachuk AN,Booth J,Patch KB,Allgood S,Pole AR,Fernandez CA,Mwaikambo ED,Mutabingwa TK,Fried M,Sorensen B,Duffy PE,Granger DL,Anstey NM,Weinberg JB

更新日期：2010-02-01 00:00:00

abstract：:Investigation of lymphocyte cultures from three females heterozygous for fra(X)(q27) shows widely differing proportions of early and late replicating X chromosomes having the fragile site, and suggests that the replication status of the fragile X may be related to the mental capacity of the patient. The study has util...

journal_title：Human genetics

authors： Howell RT,McDermott A

更新日期：1982-01-01 00:00:00

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

journal_title：Human genetics

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

abstract：:Disease-causing mutations have been identified in various entities of autosomal dominant ataxia and in Friedreich's ataxia. However, no molecular pathogenic factor is known to cause idiopathic cerebellar ataxias. We investigated the CAG/CTG trinucleotide repeats causing spinocerebellar ataxia types 1, 2, 3, 6, 7, 8 an...

journal_title：Human genetics

authors： Schöls L,Szymanski S,Peters S,Przuntek H,Epplen JT,Hardt C,Riess O

更新日期：2000-08-01 00:00:00

abstract：:The recent observations that Peroxisome proliferator activated receptor gamma coactivator 1 alpha (PGC1A) is responsible for the induction of reactive oxygen species (ROS) detoxifying agents and that ROS triggers insulin resistance, support the role that this gene could play in the onset of Type 2 diabetes mellitus (T...

journal_title：Human genetics

authors： Bhat A,Koul A,Rai E,Sharma S,Dhar MK,Bamezai RN

更新日期：2007-06-01 00:00:00

abstract：:Cultured human fibroblasts and amniotic fluid cells (AF cells) were examined for the presence of steroid hormone receptors. In both cell types, the androgen (DHT) or glucocorticoid (dexamethasone) receptor was detected, but not the estrogen receptor. Binding parameters in fibroblasts were: for androgen: KD = 3.7 X 10(...

journal_title：Human genetics

authors： Bauknecht T

更新日期：1977-12-23 00:00:00

abstract：:In a large kindred with X-linked Menkes disease, linkage studies were performed with a restriction fragment length polymorphism (RFLP) that had been found with a cloned hybridisation probe from the proximal short arm of the X chromosome. This RFLP was considered as a potential genetic marker since the Menkes gene seem...

journal_title：Human genetics

authors： Wieacker P,Horn N,Pearson P,Wienker TF,McKay E,Ropers HH

更新日期：1983-01-01 00:00:00