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

abstract：:Using the polymerase chain reaction, a sequence comprising 400bp of the human ZFY gene was amplified specifically in the male. The method allows detection of the presence of the ZFY gene in the order of 1:10(4) cells. ...

journal_title：Human genetics

authors： Ebensperger C,Studer R,Epplen JT

更新日期：1989-06-01 00:00:00

abstract：:A severe hemolytic crisis was observed in a 5-year-old boy of Italian origin. Analysis of his hemolysate revealed a hemizygous deficiency of glucose-6-phosphate dehydrogenase (G6PD) and a heterozygous deficiency of glucosephosphate isomerase (GPI). According to the literature this is the fourth family with a combined ...

journal_title：Human genetics

authors： Arnold H,Löhr GW,Hasslinger K,Ludwig R

更新日期：1981-01-01 00:00:00

abstract：:The cDNA clone encoding human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-1 (GalNAc-T1) was isolated from colon tissue by a reverse transcriptase-polymerase chain reaction (RT-PCR). Using fluorescence in situ hybridization, the position of the GalNAc-T1 gene was shown to be localiz...

journal_title：Human genetics

authors： Takai S,Hinoda Y,Adachi T,Imai K,Oshima M

更新日期：1997-03-01 00:00:00

abstract：:Out of a population of 138,598 infants born in southern Poland between 1987 and 1989, and screened for phenylketonuria (PKU), 28 cases were ascertained probands and their parents were isolated and eight polymorphic restriction sites were analyzed within the phenylalanine hydroxylase gene region. Twenty-one different h...

journal_title：Human genetics

authors： Zygulska M,Eigel A,Aulehla-Scholz C,Pietrzyk JJ,Horst J

更新日期：1991-01-01 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：:Autosomal dominant osteogenesis imperfecta (OI) is caused by mutations in COL1A1 or COL1A2. We identified a dominant missense mutation, c.3235G>A in COL1A1 exon 45 predicting p.G1079S, in a Japanese family with mild OI. As mutations in exon 45 exhibit mild to lethal phenotypes, we tested if disruption of an exonic spl...

journal_title：Human genetics

authors： Kaneko H,Kitoh H,Matsuura T,Masuda A,Ito M,Mottes M,Rauch F,Ishiguro N,Ohno K

更新日期：2011-11-01 00:00:00

abstract：:Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant syndrome caused by haploinsufficiency of TRPS1 due to point mutations or deletions. Here, we report the first familial TRPS I due to a t(8;13)(q23.3;q21.31) translocation breakpoint <100 kb from the 5' end of TRPS1. Based on the additional abn...

journal_title：Human genetics

authors： David D,Marques B,Ferreira C,Araújo C,Vieira L,Soares G,Dias C,Pinto M

更新日期：2013-11-01 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：:The development of next-generation sequencing technologies has opened-up some new possibilities to explore the contribution of genetic variants to human diseases and in particular that of rare variants. Statistical methods have been developed to test for association with rare variants that require the definition of te...

journal_title：Human genetics

authors： Bocher O,Génin E

更新日期：2020-11-01 00:00:00

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

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

更新日期：1983-01-01 00:00:00

abstract：:Single nucleotide polymorphisms (SNPs) can significantly contribute to the characterization of the genes predisposing to iron overloads or deficiencies. We report an SNP survey of coding and non-coding regions of eight genes involved in iron metabolism, by two successive methods. First, we made use of the public domai...

journal_title：Human genetics

authors： Douabin-Gicquel V,Soriano N,Ferran H,Wojcik F,Palierne E,Tamim S,Jovelin T,McKie AT,Le Gall JY,David V,Mosser J

更新日期：2001-10-01 00:00:00

abstract：:The vasopressin V2 receptor (V2R) and the aquaporin-2 genes of two unrelated male patients with congenital nephrogenic diabetes insipidus were analyzed. The V2R gene of the patient of family 1 had the wild-type sequence. Consequently, the coding region of the aquaporin-2 gene including the exon-intron junctions was se...

journal_title：Human genetics

authors： Oksche A,Möller A,Dickson J,Rosendahl W,Rascher W,Bichet DG,Rosenthal W

更新日期：1996-11-01 00:00:00

abstract：:Recently, the human orthologue to the cell cycle checkpoint genes rad17 (Schizosaccharomyces pombe) and RAD24 (Saccharomyces cerevisiae), called HRAD17, has been isolated and localized to chromosome 4. Independently, we have isolated the HRAD17 transcript and mapped it to chromosome 5q13 between the CCNB1 and BTF2p44c...

journal_title：Human genetics

authors： von Deimling F,Scharf JM,Liehr T,Rothe M,Kelter AR,Albers P,Dietrich WF,Kunkel LM,Wernert N,Wirth B

更新日期：1999-07-01 00:00:00

abstract：:A single-strand conformational polymorphism found in the DNA of a patient with neurofibromatosis 1 (NF1) was shown to be caused by a deletion of a CCACC or CACCT sequence and an adjacent transversion, located about 500 base pairs downstream from the region that codes for a functional domain of the NF1 gene product. Th...

journal_title：Human genetics

authors： Stark M,Assum G,Krone W

更新日期：1991-10-01 00:00:00

abstract：:We have recently demonstrated tight linkage of the Duffy blood group marker to the alpha-spectrin gene in an extended pedigree with Charcot-Marie-Tooth neuropathy. To determine a more precise location of the Duffy blood group locus on the chromosome 1 map we have tested several more chromosome 1 genes for linkage with...

journal_title：Human genetics

authors： Raeymaekers P,Van Broeckhoven C,Backhovens H,Wehnert A,Muylle L,De Jonghe P,Gheuens J,Martin JJ,Vandenberghe A

更新日期：1989-02-01 00:00:00

abstract：:Peripheral blood sister chromatid exchange (SCE) rates in chronic cigarette smokers and in subjects with cancer do not differ from those in healthy nonsmokers. SCE patterns were normal in 69 chronic cigarette smokers, including 62 patients with untreated lung cancer. In three chronic smokers with lung cancer, high SCE...

journal_title：Human genetics

authors： Hollander DH,Tockman MS,Liang YW,Borgaonkar DS,Frost JK

更新日期：1978-10-31 00:00:00

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

authors： Ceballos FC,Hazelhurst S,Ramsay M

更新日期：2019-10-01 00:00:00

abstract：:The pachytene configurations formed in the ovary of a mosaic 18p-;iso 18q human foetus (22 weeks gestation) are analysed using a surface spreading technique. Three features of interest are the apparent meiotic delay of oocyte development, oocyte degeneration, and the triple pairing which occurs in one cell line when t...

journal_title：Human genetics

authors： Speed RM

更新日期：1986-03-01 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：:Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder characterised by muscle weakness and wasting. There are two forms of DM; both of which are caused by the expansion of repeated DNA sequences. DM1 is associated with a CTG repeat located in the 3' untranslated region of a gene, DMPK and DM2 with a...

journal_title：Human genetics

authors： Machuca-Tzili L,Thorpe H,Robinson TE,Sewry C,Brook JD

更新日期：2006-11-01 00:00:00

abstract：:Multiple sclerosis (MS) is a common complex neurodegenerative disease of the central nervous system. It develops with autoimmune inflammation and demyelination. Genome-wide association studies (GWASs) serve as a powerful tool for investigating the genetic architecture of MS and are generally used to identify the genet...

journal_title：Human genetics

authors： Bashinskaya VV,Kulakova OG,Boyko AN,Favorov AV,Favorova OO

更新日期：2015-11-01 00:00:00

abstract：:Basal levels of C-reactive protein (CRP) have been associated with disease, particularly future cardiovascular events. Twin studies estimate 50% CRP heritability, so the identification of genetic variants influencing CRP expression is important. Existing studies in populations of European ancestry have identified nume...

journal_title：Human genetics

authors： Rhodes B,Morris DL,Subrahmanyan L,Aubin C,de Leon CF,Kelly JF,Evans DA,Whittaker JC,Oksenberg JR,De Jager PL,Vyse TJ

更新日期：2008-07-01 00:00:00

abstract：:An inv ins(7;2)(q21.2;q3105q24.2) was found to segregate through four generations of a family. Adjacent-1 segregation aneusomies were ascertained in five patients: three monosomics and two trisomics; and the corresponding syndromes were delineated. The comparative analysis between these and other previously described ...

journal_title：Human genetics

authors： Moller M,García-Cruz D,Rivera H,Sánchez-Corona J,Cantú JM

更新日期：1984-01-01 00:00:00

abstract：:A simple routine method for detecting individuals who are heterozygous for the silent gene Gt 0 is presented. This method consists of a combination of electrophoresis and densitometry. The results confirm the theoretical expectation that these individuals would exhibit about 50% of the enzyme activity found in the cor...

journal_title：Human genetics

authors： Siebert G,Kömpf J,Ritter H

更新日期：1980-01-01 00:00:00

abstract：:1108 tribal and 1062 non-tribal individuals from three districts of Andhra Pradesh were examined for serum albumin variants. A slow-moving variant, identical to Albumin Kashmir was found in a single Muslim individual. Another new slow-moving variant, faster than Albumin Kashmir found in a single individual of a Koya D...

journal_title：Human genetics

authors： Rao PR,Goud JD,Swamy BR

更新日期：1979-10-01 00:00:00

abstract：:We investigated common length polymorphisms in the hypervariable region located 3' to the human gene encoding apolipoprotein B (APOB 3' HVR) as part of the "Pathobiological Determinants of Atherosclerosis in Youth (PDAY)" study. PDAY is a multicenter study of young persons who died of external causes (accident, homici...

journal_title：Human genetics

authors： Hixson JE,Powers PK,McMahan CA

更新日期：1993-06-01 00:00:00

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

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

abstract：:A neonate with clinical features of the 11q23 deletion syndrome was apparently mosaic with the dominant cell line showing deletion of the chromosomal segment 11q23.3 to 11qter. The presence of a few lymphocytes with a normal karyotype indicates post-zygotic deletion of chromosome 11. The mother and brother of the prop...

journal_title：Human genetics

authors： Voullaire LE,Webb GC,Leversha MA

更新日期：1987-06-01 00:00:00

abstract：:Sibs with apparent Dyggve-Melchior-Clausen (DMC) dwarfism and normal intelligence are described. Three other familial and 3 sporadic cases with DMC dwarfism and normal intelligence are known. Twelve familial and 9 sporadic cases are known with the usual combination of DMC dwarfism and severe mental retardation. Since ...

journal_title：Human genetics

authors： Spranger J,Bierbaum B,Herrmann J

更新日期：1976-08-30 00:00:00

abstract：:We tested 190 chromosomes from Dutch cystic fibrosis (CF) patients and carriers for the presence or absence of the major CF mutation delta F508. This mutation was found on 77% of the Dutch CF chromosomes. We observed a significant difference in the distribution of the ages at diagnosis between homozygotes for delta F5...

journal_title：Human genetics

authors： Halley DJ,Veeze HJ,Sandkuyl LA,Wesby-van Swaay E,van Damme NH,Deelen WH,Witte JE,Niermeijer MF

更新日期：1990-09-01 00:00:00