A substitution of cytosine for thymine in codon 110 of the human beta-globin gene is a novel cause of beta-thalassemia phenotypes.

abstract：:We identified two additional mutations in the ferrochelatase gene in two Swiss patients with erythropoietic protoporphyria (EPP). Ferrochelatase cDNA from patients was amplified by the polymerase chain reaction (PCR) and subjected to mutation analysis by sequencing PCR products either directly or after subcloning. The...

journal_title：Human genetics

authors： Schneider-Yin X,Schäfer BW,Möhr P,Burg G,Minder EI

更新日期：1994-06-01 00:00:00

abstract：:Idiopathic basal ganglia calcification (IBGC) is characterised by radiological, neurological, cognitive and psychiatric abnormalities. The associations between these abnormal phenotypes and abnormal genes remain unclear despite the recent mapping to chromosome 14q of a susceptibility locus for IBGC ( IBGC1). We identi...

journal_title：Human genetics

authors： Brodaty H,Mitchell P,Luscombe G,Kwok JJ,Badenhop RF,McKenzie R,Schofield PR

更新日期：2002-01-01 00:00:00

abstract：:Hereditary hemochromatosis (HFE) is an inherited disorder whose gene lies in the proximity of the histocompatibility antigen (HLA) class I region, on 6p21.3. Despite efforts in refining the HFE region, a number of informative DNA markers, linked to the disease locus and amenable to use in an assay based on the polymer...

journal_title：Human genetics

authors： Totaro A,Grifa A,Roetto A,Lunardi C,D'Agruma L,Sbaiz L,Zelante L,De Sandre G,Camaschella C,Gasparini P

更新日期：1995-04-01 00:00:00

abstract：:We describe a 17-month-old infant with clinical features of Down syndrome and a normal karyotype by standard chromosomal analysis, her two uncles aged 28 and 30 years, respectively, with reduced intelligence and unusual appearance but not apparent Down syndrome, and a severely retarded 6-year-old girl with dysmorphy a...

journal_title：Human genetics

authors： Bartsch O,Hinkel GK,Petersen MB,König U,Bugge M,Mikkelsen M,Avramopoulos D,Morris M,Antonarakis SE

更新日期：1997-10-01 00:00:00

abstract：:Our understanding of the process of autophagy and its role in health and diseases has grown remarkably in the last two decades. Early work established autophagy as a general bulk recycling process which involves the sequestration and transport of intracellular material to the lysosome for degradation. Currently, autop...

journal_title：Human genetics

authors： Wong SQ,Kumar AV,Mills J,Lapierre LR

更新日期：2020-03-01 00:00:00

abstract：:The human St2 locus has been assigned to chromosome 2, using a human ST2 cDNA clone, by a human/rodent somatic cel hybrid mapping panel. The St2 locus has also been mapped to chromosome 2q11.2, using a human ST2 genomic DNA clone, by in situ hybridization. The locus is very tightly linked to the Il-1r1 locus. Together...

journal_title：Human genetics

authors： Tominaga S,Inazawa J,Tsuji S

更新日期：1996-05-01 00:00:00

abstract：:Interspersed simple repetitive DNA is a convenient genetic marker for analysis of restriction fragment length polymorphisms (RFLPs) because of the numbers and the frequencies of its alleles. Oligonucleotide probes specific for variations of the GATCA simple repeats have been designed and hybridized to a panel of human...

journal_title：Human genetics

authors： Ali S,Müller CR,Epplen JT

更新日期：1986-11-01 00:00:00

abstract：:A protocol is reported which allows the efficient induction of bromodeoxyuridine (BrdU)-induced R-type replication patterns in fibroblast cultures prepared to demonstrate the fragile site fra(X)(q27). The technique includes partial synchronization of the culture by fluorodeoxyuridine (FdU) blocking at the G1/S transit...

journal_title：Human genetics

authors： Barbi G,Steinbach P,Wiedenmann A,Vogel W

更新日期：1983-01-01 00:00:00

abstract：:The cell morphology of long-term cultures of amniotic fluid cells from 10 fetuses with a neural tube defect (NTD) and three with omphalocele was examined and compared to 30 long-term cultures of normal amniotic fluids as well as a long-term culture of human fetal brain. Cultures from the amniotic fluids of the fetuses...

journal_title：Human genetics

authors： Medina-Gómez P,Johnston TH

更新日期：1982-01-01 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：: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：:Lactose tolerance tests with conventional blood glucose determination and with breath hydrogen analysis after storage of breath samples in aluminium aerosol cans were simultaneously performed in 60 healthy adult subjects. Both tests were equally reliable in the diagnosis of the lactase phenotype in healthy persons. In...

journal_title：Human genetics

authors： Howell JN,Schockenhoff T,Flatz G

更新日期：1981-05-01 00:00:00

abstract：:A previous analysis of mtDNA variation in the Caucasus found that Indo-European-speaking Armenians and Turkic-speaking Azerbaijanians were more closely related genetically to other Caucasus populations (who speak Caucasian languages) than to other Indo-European or Turkic groups, respectively. Armenian and Azerbaijania...

journal_title：Human genetics

authors： Nasidze I,Sarkisian T,Kerimov A,Stoneking M

更新日期：2003-03-01 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：: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：:Beta-2 microglobulin (B2M) is a component of the major histocompatibility complex (MHC) class I molecule and has been studied as a biomarker of kidney function, cardiovascular diseases and mortality. Little is known about the genes influencing its levels directly or through glomerular filtration rate (GFR). We conduct...

journal_title：Human genetics

authors： Tin A,Astor BC,Boerwinkle E,Hoogeveen RC,Coresh J,Kao WH

更新日期：2013-06-01 00:00:00

abstract：:Therapeutic interventions that lower LDL-cholesterol effectively reduce the risk of coronary artery disease (CAD). However, statins, the most widely prescribed LDL-cholesterol lowering drugs, increase diabetes risk. We used genome-wide association study (GWAS) data in the public domain to investigate the relationship ...

journal_title：Human genetics

authors： Tragante V,Asselbergs FW,Swerdlow DI,Palmer TM,Moore JH,de Bakker PIW,Keating BJ,Holmes MV

更新日期：2016-05-01 00:00:00

abstract：:Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, as well as syndromal associations. These conditions have a significant impact on vision due to disruption of the visual axis, and al...

journal_title：Human genetics

authors： Ma AS,Grigg JR,Jamieson RV

更新日期：2019-09-01 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：: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

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

abstract：:A continuous increase in the incidence of Down syndrome in Sweden was noted during 1979-1981. This increase mainly occurred among children of younger mothers and was more pronounced for the males than for the females. There was no evidence of a significant seasonal variation, increased frequency of prematurely born ch...

journal_title：Human genetics

authors： Iselius L,Lindsten J

更新日期：1986-02-01 00:00:00

abstract：:Steroid sulfatase activities are significantly higher in placentas obtained after the birth of girls than after the birth of boys, and also in female fibroblasts compared to male strains. This constitutes biochemical evidence for the non-inactivation of the X-linked sulfatase locus. No hydrolytic activity is found in ...

journal_title：Human genetics

authors： Bedin M,Weil D,Fournier T,Cedard L,Frezal J

更新日期：1981-01-01 00:00:00

abstract：:The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in o...

journal_title：Human genetics

authors： Stenson PD,Mort M,Ball EV,Evans K,Hayden M,Heywood S,Hussain M,Phillips AD,Cooper DN

更新日期：2017-06-01 00:00:00

abstract：:The effect of the enzymes phospholipases C and D on Factor VIII were investigated. Phospholipase D was found to activate the partially purified intact Factor-VIII molecule maximally at a final concentration of 0.6 U/ml. Neither the dissociated small molecular weight component nor the high molecular weight component we...

journal_title：Human genetics

authors： Ananthakrishnan R,D'Souza S

更新日期：1978-01-19 00:00:00

abstract：:Human coagulation factor XII (fXII), a serine protease synthesized in liver and active in plasma, is involved in a wide variety of functions, including blood coagulation, fibrinolysis, bradykinin and complement activation. A complementary DNA (597 bp) encoding amino acid -16 to amino acid 183 of fXII protein was used ...

journal_title：Human genetics

authors： Citarella F,Tripodi M,Fantoni A,Bernardi F,Romeo G,Rocchi M

更新日期：1988-12-01 00:00:00

abstract：:A family with five induced and seven spontaneous abortions and no live births is described. Four of the seven spontaneous abortuses were available for cytogenetic examination and three were successfully karyotyped. Their karyotypes were 46,XX; 46,XX/46,XX,t(2;2)(2p2p;2q2q); and 46,XY. The karyotypes of the parents wer...

journal_title：Human genetics

authors： Ohama K,Kusumi I,Takahara H,Kajii T

更新日期：1978-01-19 00:00:00

abstract：:Distal hereditary motor neuropathies predominantly affect the motor neurons of the peripheral nervous system leading to chronic disability. Using whole genome sequencing (WGS) we have identified a novel structural variation (SV) within the distal hereditary motor neuropathy locus on chromosome 7q34-q36.2 (DHMN1). The ...

journal_title：Human genetics

authors： Drew AP,Cutrupi AN,Brewer MH,Nicholson GA,Kennerson ML

更新日期：2016-11-01 00:00:00

abstract：:A total of 1242 individuals from six Chinese ethnic groups were studied with respect to the glyoxalase I polymorphism using agarose gel electrophoresis. The GLO1*1 gene frequency and the number of subjects tested in each population are as follows: Uygur 0.2466 (219), Hui 0.1621 (219), Dong 0.1866 (201), Bai 0.1921 (20...

journal_title：Human genetics

authors： Li SZ,Wang LQ,Du RF

更新日期：1986-11-01 00:00:00

abstract：:The karyotypes of more than 60 species of Primates are studied and compared, with the use of almost all existing banding techniques. There is a very close analogy of chromosome banding between the Simians studied and man. The quantitative or qualitative variations detected all involve the heterochromatin. It is very l...

journal_title：Human genetics

authors： Dutrillaux B

更新日期：1979-05-10 00:00:00

abstract：:Chromosome studies were carried out in four members of a sibship with a 15p+ chromosome. Two carriers had normal offspring, one was unmarried, and the index case had three abortions and no live children. By means of different banding techniques, up to four satellites and four stalks could be observed on the abnormal c...

journal_title：Human genetics

authors： Pérez-Castillo A,Martín-Lucas MA,Abrisqueta JA

更新日期：1986-01-01 00:00:00