Variability in allelic DNA methylation in spermatozoa.

abstract：:Thirty one families with Alport syndrome including 3 families with associated syndromes were studied. The location of the COL4A5 gene, responsible for the Alport syndrome, was determined by linkage analysis with eight probes of the Xq arm and by a radiation hybrid panel. Concordant data indicated the localization of t...

journal_title：Human genetics

authors： M'Rad R,Sanak M,Deschenes G,Zhou J,Bonaiti-Pellie C,Holvoet-Vermaut L,Heuertz S,Gubler MC,Broyer M,Grunfeld JP

更新日期：1992-12-01 00:00:00

abstract：:To better understand the evolutionary history of the gene region containing the multifunctional adipose tissue hormone leptin, we genotyped 1,957 individuals from 12 world populations for a highly variable tetranucleotide repeat polymorphism located 476 bp 3' of exon 3 of the leptin gene. Common alleles shared among p...

journal_title：Human genetics

authors： Moffett S,Martinson J,Shriver MD,Deka R,McGarvey ST,Barrantes R,Ferrell RE

更新日期：2002-05-01 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：:A meta-analysis assessed whether the Ala45Thr polymorphism of the neurogenic differentiation 1 (NEUROD1) gene is associated with increased risk of diabetes mellitus type 1 (T1D) or type 2 (T2D). Fourteen case-control studies were analyzed, including genotype data on 3,057 patients with diabetes (T1D n=1,213, T2D n=1,8...

journal_title：Human genetics

authors： Kavvoura FK,Ioannidis JP

更新日期：2005-02-01 00:00:00

abstract：:Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22...

journal_title：Human genetics

authors： Mehraein Y,Wippermann CF,Michel-Behnke I,Nhan Ngo TK,Hillig U,Giersberg M,Aulepp U,Barth H,Fritz B,Rehder H

更新日期：1997-04-01 00:00:00

abstract：:Although microsatellite typing is the dominant method in genome research and indirect gene diagnosis, precise relationships of exonic and adjacent simple repeat polymorphisms are not known. We investigated exon 2 sequences of HLA-DRB1 genes and their neighbouring (GT)n(GA)m repeats including the intervening single cop...

journal_title：Human genetics

authors： Epplen C,Santos EJ,Guerreiro JF,van Helden P,Epplen JT

更新日期：1997-03-01 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

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：:This study reports the characterization of 60% of low density lipoprotein receptor (LDLR) gene mutations in 150 unrelated Greek familial hypercholesterolaemia (FH) heterozygous children by the analysis of six LDLR gene mutations. The linkage disequilibrium of two polymorphic microsatellites (D19S394 and D19S221) flank...

journal_title：Human genetics

authors： Traeger-Synodinos J,Mavroidis N,Kanavakis E,Drogari E,Humphries SE,Day IN,Kattamis C,Matsaniotis N

更新日期：1998-03-01 00:00:00

abstract：:Enzymatic DNA amplification and polyacrylamide gel electrophoresis, which demonstrate different sizes of DNA fragments, were used to detect the common mutations causing beta-thalassemia and hemoglobin (Hb) E in Thai people. The 4-bp deletion at codons 41 and 42 can be detected directly by polyacrylamide gel electropho...

journal_title：Human genetics

authors： Winichagoon P,Kownkon J,Yenchitsomanus P,Thonglairoam V,Siritanaratkul N,Fucharoen S

更新日期：1989-07-01 00:00:00

abstract：:Germline mutations of the adenomatous polyposis coli ( APC) gene cause familial adenomatous polyposis (FAP), an autosomal, dominantly inherited disease that predisposes patients to colorectal cancer. The APC gene is composed of 15 coding exons and encodes an open reading frame of 8.5 kb. The 3' 6.5 kb of the APCopen r...

journal_title：Human genetics

authors： Su LK,Kohlmann W,Ward PA,Lynch PM

更新日期：2002-07-01 00:00:00

abstract：:Proximal spinal muscular atrophy (SMA) is a neuromuscular disorder caused by homozygous mutations of the SMN1 gene. SMN1 interacts with multiple proteins with functions in snRNP biogenesis, pre-mRNA splicing and presumably neural transport. SMN2, a nearly identical copy of SMN1, produces predominantly exon 7-skipped t...

journal_title：Human genetics

authors： Helmken C,Hofmann Y,Schoenen F,Oprea G,Raschke H,Rudnik-Schöneborn S,Zerres K,Wirth B

更新日期：2003-12-01 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

abstract：:Based on four reported cases including the present case, 16p trisomic infants have remarkably similar features. These are severe developmental delay, psychomotor retardation, typical facies, and anomalies of extremities. ...

journal_title：Human genetics

authors： Jalal SM,Day DW,Garcia M,Benjamin T,Rogers J

更新日期：1989-01-01 00:00:00

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

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

更新日期：1981-01-01 00:00:00

abstract：:The structural abnormality of mRNA for argininosuccinate synthetase (ASS) and the structure of immune cross-reactive material for ASS (ASS-CRM) in the liver of a patient with type III citrullinemia were analyzed using dot and Northern blot hybridization, S1 nuclease analysis, and a sensitive enzyme-linked immunosorben...

journal_title：Human genetics

authors： Kobayashi K,Ichiki H,Saheki T,Tatsuno M,Uchiyama C,Nukada O,Yoda T

更新日期：1987-05-01 00:00:00

abstract：:We have used Y-specific and Y-derived DNA probes for in situ hybridization and Southern blotting analysis to characterize a Y;15 translocation showing normal Mendelian inheritance in a family. Cytogenetically there appeared to be an unbalanced translocation of Yqh to 15p; this translocation may be considered as a prot...

journal_title：Human genetics

authors： Alitalo T,Tiihonen J,Hakola P,de la Chapelle A

更新日期：1988-05-01 00:00:00

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：:We report here that a defect of the interleukin common gamma subunit (gamma c) in X-linked severe combined immunodeficiency (XSCID) previously known as a missense mutation resulted instead in exon skipping in a Japanese XSCID patient. The phenotype of the patient was consistent with that of typical XSCID, and his Epst...

journal_title：Human genetics

authors： Kanai N,Yanai F,Hirose S,Nibu K,Izuhara K,Tani T,Kubota T,Mitsudome A

更新日期：1999-01-01 00:00:00

abstract：:The authors report a case of a balanced 1;17 translocation with breakpoints located in the secondary constriction of chromosome 1. This translocation is associated with pathological symptoms similar to those observed following a proximal deletion of 1q. We request contact with colleques who have observed similar, or r...

journal_title：Human genetics

authors： Vorsanova SG,Yurov YB,Kurbatov MB,Kazantzeva LZ

更新日期：1990-12-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have been successful in identifying and confirming novel genetic variants that are associated with diverse HIV phenotypes. However, these studies have predominantly focused on European cohorts. HLA molecules have been consistently associated with HIV outcomes, some of which have ...

journal_title：Human genetics

authors： Gingras SN,Tang D,Tuff J,McLaren PJ

更新日期：2020-06-01 00:00:00

abstract：:Qualitative and quantitative defects in human germ cell production that result in infertility are common and determined at least in part by genetic factors [Matzuk and Lamb, Nat Cell Biol 4(Suppl):s41-s49, 2002]. Yet, very few genes that are associated with germ cell defects in humans have been identified. In this stu...

journal_title：Human genetics

authors： Tung JY,Rosen MP,Nelson LM,Turek PJ,Witte JS,Cramer DW,Cedars MI,Pera RA

更新日期：2006-02-01 00:00:00

abstract：:A family with four 46,XX siblings affected by the pure gonadal dysgenesis syndrome is described. Inheritance is by an autosomal recessive gene limited to the female sex. ...

journal_title：Human genetics

authors： Nazareth HR,Farah LM,Cunha AJ,Vieira FJ

更新日期：1977-06-10 00:00:00

abstract：:Ninety-six alleles (36 alleles of Japanese and 60 of Caucasian origin) from forty-eight patients with mucopolysaccharidosis IVA were investigated for structural gene alterations using Southern blot analysis. All patients had a previously demonstrated deficiency of N-acetyl-galactosamine-6-sulfate-sulfatase and exhibit...

journal_title：Human genetics

authors： Tomatsu S,Fukuda S,Cooper A,Wraith JE,Uchiyama A,Hori T,Nakashima Y,Yamada N,Sukegawa K,Kondo N

更新日期：1995-04-01 00:00:00

abstract：:Extremely rare diseases are increasingly recognized due to wide-spread, inexpensive genomic sequencing. Understanding the incidence of rare disease is important for appreciating its health impact and allocating recourses for research. However, estimating incidence of rare disease is challenging because the individual ...

journal_title：Human genetics

authors： Bainbridge MN

更新日期：2020-05-01 00:00:00

abstract：:High resolution cytogenetics, microsatellite marker analyses, and fluorescence in situ hybridization were used to define Xq deletions encompassing the fragile X gene, FMR1, detected in individuals from two unrelated families. In Family 1, a 19-year-old male had facial features consistent with fragile X syndrome; howev...

journal_title：Human genetics

authors： Wolff DJ,Gustashaw KM,Zurcher V,Ko L,White W,Weiss L,Van Dyke DL,Schwartz S,Willard HF

更新日期：1997-08-01 00:00:00

abstract：:The gene locus for hereditary retinoblastoma is on human chromosome 13, band q14. With this gene localization in mind, we cloned DNA fragments from this chromosome. Three of the fragments identify restriction fragment length polymorphisms. These three fragments are from the region 13q12-13q22, the chromosome region wh...

journal_title：Human genetics

authors： Dryja TP,Rapaport JM,Weichselbaum R,Bruns GA

更新日期：1984-01-01 00:00:00

abstract：:We investigated whether a G123-->A mutation causing a Gly40-->Ser substitution in exon 2 of the human glucagon receptor gene, which has been reported to be associated with non-insulin-dependent diabetes mellitus (NIDDM) and impaired glucose tolerance (IGT) in France and Sardinia with a prevalences as high as 4.6% and ...

journal_title：Human genetics

authors： Odawara M,Tachi Y,Yamashita K

更新日期：1996-12-01 00:00:00

abstract：:Multiple sclerosis (MS) is a demyelinating disorder of the central nervous system with putative autoimmune aetiology and complex genetic background. Here, we report the results of a genome screen for linkage disequilibrium (LD) by using 6000 microsatellite markers in 198 HLA-DRB1*15-positive MS patients and 198 unrela...

journal_title：Human genetics

authors： Goedde R,Sawcer S,Boehringer S,Miterski B,Sindern E,Haupts M,Schimrigk S,Compston A,Epplen JT

更新日期：2002-09-01 00:00:00

abstract：:Turner syndrome is a sex chromosome aneuploidy with characteristic malformations. Amniotic fluid, a complex biological material, could contribute to the understanding of Turner syndrome pathogenesis. In this pilot study, global gene expression analysis of cell-free RNA in amniotic fluid supernatant was utilized to ide...

journal_title：Human genetics

authors： Massingham LJ,Johnson KL,Scholl TM,Slonim DK,Wick HC,Bianchi DW

更新日期：2014-09-01 00:00:00