Isolation and characterization of the human mismatch repair gene hMSH2 promoter region.

abstract：:Amplification of the beta-globin gene by the polymerase chain reaction (PCR) and direct sequencing were used for a fast and reliable identification of the beta-globin variant Hb D Los Angeles and revealed the predicted G----C substitution in codon 121. The same method showed the molecular defect in Hb Presbyterian to ...

journal_title：Human genetics

authors： Schnee J,Aulehla-Scholz C,Eigel A,Horst J

更新日期：1990-03-01 00:00:00

abstract：:In situ hybridization of tritiated cDNA probes for the gene for the B subunit of coagulation factor XIII localized the F13B locus to bands q31-q32.1 on human chromosome 1 and perhaps more precisely to sub-bands 1q31.2 or 1q31.3. Restriction fragment length polymorphisms (RFLPs) were detected with BglII, EcoRI and XbaI...

journal_title：Human genetics

authors： Webb GC,Coggan M,Ichinose A,Board PG

更新日期：1989-01-01 00:00:00

abstract：:Spi1 is an oncogene specifically activated in acute murine erythroleukemias induced by the Friend spleen focus forming virus (SFFV). Three probes were used for the chromosomal assignment of the human SPI1 oncogene: cDb1 and RaB2 correspond respectively to murine Spi1 and human SPI1 cDNA probes; C45a6B probe is a murin...

journal_title：Human genetics

authors： Nguyen VC,Ray D,Gross MS,de Tand MF,Frézal J,Moreau-Gachelin F

更新日期：1990-05-01 00:00:00

abstract：:We describe a common dystrophin gene polymorphism in the black population that alters both HindIII and BglII restriction sites. ...

journal_title：Human genetics

authors： Prior TW,Papp AC,Snyder PJ,Burghes AH,Wallace BH

更新日期：1992-08-01 00:00:00

abstract：:Two reciprocal balanced translocations involving chromosomes 2, 9, 12, and 18 were found in the karyotype of a woman with a child showing several congenital malformations at birth. Prenatal cytogenetic diagnosis, performed when a second pregnancy occurred, showed a normal chromosome constitution in the foetus. ...

journal_title：Human genetics

authors： Simoni G,Montali E,Rossella F,Dalprà L,Lo Curto F

更新日期：1979-01-25 00:00:00

abstract：:We have determined the frequency of deletion delta F508 and mutation G542X, a nonsense mutation in exon 11 of the cystic fibrosis (CF) gene, in a sample of 400 Spanish CF families. Mutation G542X represents 8% of the total number of CF mutations in Spain, making it the second most common mutation after the delta F508 ...

journal_title：Human genetics

authors： Casals T,Nunes V,Palacio A,Giménez J,Gaona A,Ibáñez N,Morral N,Estivill X

更新日期：1993-03-01 00:00:00

abstract：:It has recently been suggested that short expansions of CAG repeat in the gene ATXN-2 causing SCA2 (spinocerebellar ataxia type 2) are associated with an increased risk of amyotrophic lateral sclerosis (ALS) in the populations of the USA and northern Europe. In this study, we investigated the role of ATXN-2 in Italian...

journal_title：Human genetics

authors： Corrado L,Mazzini L,Oggioni GD,Luciano B,Godi M,Brusco A,D'Alfonso S

更新日期：2011-10-01 00:00:00

abstract：:Metabolic syndrome is a complex human disorder characterized by a cluster of conditions (increased blood pressure, hyperglycemia, excessive body fat around the waist, and abnormal cholesterol or triglyceride levels). Any of these conditions increases the risk of serious disorders such as diabetes or cardiovascular dis...

journal_title：Human genetics

authors： Graziano F,Biino G,Bonati MT,Neale BM,Do R,Concas MP,Vaccargiu S,Pirastu M,Terradura-Vagnarelli O,Cirillo M,Laurenzi M,Mancini M,Zanchetti A,Grassi M

更新日期：2019-07-01 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：:Anderson Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. Hemizygous males and some heterozygous females develop renal failure and cardiovascular complications in early adult life. We have investigated six large UK families to assess the possible linkage of five polym...

journal_title：Human genetics

authors： MacDermot KD,Morgan SH,Cheshire JK,Wilson TM

更新日期：1987-11-01 00:00:00

abstract：:We have examined unfertilised oocytes and their first polar bodies (PBs) to determine the way in which the frequency of whole chromosome imbalance compares with that involving single chromatids and whether the precocious separation of chromatids prior to anaphase I affects all pairs of chromosomes. We have applied the...

journal_title：Human genetics

authors： Mahmood R,Brierley CH,Faed MJ,Mills JA,Delhanty JD

更新日期：2000-06-01 00:00:00

abstract：:Deletion and truncation mutations in the X-linked gene CASK are associated with severe intellectual disability (ID), microcephaly and pontine and cerebellar hypoplasia in girls (MICPCH). The molecular origin of CASK-linked MICPCH is presumed to be due to disruption of the CASK-Tbr-1 interaction. This hypothesis, howev...

journal_title：Human genetics

authors： LaConte LEW,Chavan V,Elias AF,Hudson C,Schwanke C,Styren K,Shoof J,Kok F,Srivastava S,Mukherjee K

更新日期：2018-03-01 00:00:00

abstract：:A group of small peptides with a typical cysteine-rich domain (termed trefoil motif or P-domain) is abundantly expressed at mucosal surfaces of specific normal and neoplastic tissues. Their association with the maintenance of surface integrity was suggested. The first known human trefoil peptide (pS2) was isolated fro...

journal_title：Human genetics

authors： Beck S,Schmitt H,Shizuya H,Blin N,Gött P

更新日期：1996-08-01 00:00:00

abstract：:Defects in the enzyme steroid 21-hydroxylase (21-OH) result in congenital adrenal hyperplasia (CAH), a frequent disorder of steroid biosynthesis. The gene encoding the enzyme, 21-OHB, has been mapped adjacent to the complement component C4B gene in the human HLA gene complex. DNA-level analyses of patients with CAH ha...

journal_title：Human genetics

authors： Partanen J,Koskimies S,Sipilä I

更新日期：1988-04-01 00:00:00

abstract：:Lipoprotein(a) [Lp(a)] is a quantitative trait in human plasma. Lp(a) consists of a low-density lipoprotein and the plasminogen-related apolipoprotein(a) [apo(a)]. The apo(a) gene determines a size polymorphism of the protein, which is related to Lp(a) levels in plasma. In an attempt to gain a deeper insight into the ...

journal_title：Human genetics

authors： Kraft HG,Köchl S,Menzel HJ,Sandholzer C,Utermann G

更新日期：1992-11-01 00:00:00

abstract：:Concomitance of four fragile sites (at 16p13, 16q22, 16q23, Yq12) in the lymphocyte cultures of two brothers is reported. The expression of each of these fragile sites was enhanced (or induced) by different culture conditions. Some of the inducing conditions are already known and others are reported here for the first...

journal_title：Human genetics

authors： Shabtai F,Orlin J,Hart J,Halbrecht I,Klar D,Friedman J

更新日期：1986-09-01 00:00:00

abstract：:A reliable technique for staining human chromosomal nucleolar organizers (NOR's) with silver solutions is described. The NOR's can be selectively stained dark brown by silver solutions leaving the chromosome arms unstained and available for counterstaining with orcein or Giemsa dyes. Unequivocal identification of chro...

journal_title：Human genetics

authors： Bloom SE,Goodpasture C

更新日期：1976-10-28 00:00:00

abstract：:Subjects in the National Academy of Sciences-National Research Council Twin Registry of 31,848 male twin veterans were followed for mortality from 1 January 1946, or from the date of entry into military service if that was later, to 31 December 1978. During this time 3,573 deaths occurred among them, 837 due to trauma...

journal_title：Human genetics

authors： Hrubec Z,Neel JV

更新日期：1981-01-01 00:00:00

abstract：:Published data on the association between FAS -1,377 G/A polymorphism and cancer risk are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. A total of 17 studies including 10,564 cases and 12,075 controls were involved in this meta-analysis. Overall, significantly el...

journal_title：Human genetics

authors： Qiu LX,Shi J,Yuan H,Jiang X,Xue K,Pan HF,Li J,Zheng MH

更新日期：2009-05-01 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

abstract：:Three patients with 45,X/46,XYnf mosaicism were investigated by Southern hybridization using both X- and Y-specific DNA probes. Our patients seem to be hemizygous for the X chromosomal loci tested. Single-copy and low-copy repeated Y chromosomal sequences assigned to the short arm, centromere, and euchromatin of the l...

journal_title：Human genetics

authors： Gänshirt-Ahlert D,Pawlowitzki IH,Gal A

更新日期：1987-06-01 00:00:00

abstract：:We report the first use of amnion epithelium for prenatal diagnosis. Prenatal diagnosis of recessive epidermolysis bullosa atrophicans generalisata gravis Herlitz type can at present be achieved with safety by detailed ultrastructural analysis of fetal skin. Because of the close developmental origin of amnion and skin...

journal_title：Human genetics

authors： Hausser I,Anton-Lamprecht I

更新日期：1990-08-01 00:00:00

abstract：:A cDNA probe of the human COL5A1 gene detects a frequent biallelic PstI polymorphism. Allele A has a frequency of 54% whereas that of allele B is 46%. This restriction fragment length polymorphism provides a useful marker for linkage analysis in 9q34.3. ...

journal_title：Human genetics

authors： Cappa F,Caridi G,Gimelli G,Ghiggeri GM

更新日期：1995-05-01 00:00:00

abstract：:Members of three generations of a single family were examined and found to have a balanced translocation t(11;16)(q13;p11). Cytogenetic investigation and investigation of a number of gene markers is consistent with the current view that the Hp-alpha locus is situated in the proximity of band 16q22. ...

journal_title：Human genetics

authors： Gerner-Smidt P,Friedrich U,Petersen GB,Tischfield JA

更新日期：1978-05-16 00:00:00

abstract：:Complementation studies of steroid sulphatase were carried out in the heterokaryon population of fibroblasts derived from patients with X-linked ichthyosis and multiple sulphatase deficiency. The activity of steroid sulphatase of the fused cell population was constantly higher (approximately 2-5 fold) than that of the...

journal_title：Human genetics

authors： Ballabio A,Parenti G,Napolitano E,Di Natale P,Andria G

更新日期：1985-01-01 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：: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 lines of Blaschko represent a nonrandom developmental pattern of the skin fundamentally differing from the system of dermatomes. Many nevoid skin lesions display an arrangement following these lines. This is a review of case reports providing photographically documented evidence that the lines of Blaschko become m...

journal_title：Human genetics

authors： Happle R

更新日期：1985-01-01 00:00:00

abstract：:Pathogenic mutations in TMPRSS3, which encodes a transmembrane serine protease, cause non-syndromic deafness DFNB8/10. Missense mutations map in the low density-lipoprotein receptor A (LDLRA), scavenger-receptor cysteine-rich (SRCR), and protease domains of the protein, indicating that all domains are important for it...

journal_title：Human genetics

authors： Wattenhofer M,Sahin-Calapoglu N,Andreasen D,Kalay E,Caylan R,Braillard B,Fowler-Jaeger N,Reymond A,Rossier BC,Karaguzel A,Antonarakis SE

更新日期：2005-10-01 00:00:00

abstract：:Serum samples from 170 unrelated individuals from the Suceava District of Roumania and from 199 unrelated individuals from Bucharest, Roumania were tested fro Gm(1,2,3,5,6,13,14,17,21) and Km(1)[Inv(1)]. Selected samples were also tested for Gm(15) and Gm(16). The frequencies of the three common Caucasoid haplotypes, ...

journal_title：Human genetics

authors： Johnson WE,Kohn PH,Steinberg AG

更新日期：1977-11-10 00:00:00