Abstract:
:PIG-A, the gene encoding the glycoinositol phospholipid anchor synthetic element that is defective in paroxysmal nocturnal hemoglobinuria (PNH), resides on the X chromosome. In the course of analyses of PIG-A genetic alterations in PNH patients, polymerase chain reaction (PCR) amplification of reverse-transcribed RNA from affected leukocytes of a patient with diminished PIG-A mRNA expression yielded a PIG-A related sequence with 126 nucleotide substitutions and five deletions. In the present study, the origin of this product was investigated. Selective reverse transcription (RT)/PCR amplifications with primers specific for PIG-A and this variant sequence, analyses of RNA from unaffected cells, and differential endonuclease digestions showed that mRNA with this sequence is coexpressed with PIG-A mRNA in a wide range of cell types. Mapping of genomic DNA from human/rodent hybrids showed that the sequence derives from a processed gene, designated PIG-A-II, that is encoded on chromosome 12.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Nagarajan S,Brown CJ,Medof MEdoi
10.1007/BF00209489subject
Has Abstractpub_date
1995-06-01 00:00:00pages
691-7issue
6eissn
0340-6717issn
1432-1203journal_volume
95pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::A female infant with total monosomy 21 identified by Q banding is described. The main clinical features were hypertonia, prominent occiput, hypertelorism, antimongoloid slant of the eyes, broad nose, "antimongoloid", character of dermatoglyphics. Both parents are phenotypically as well as karyotypically normal. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00270866
更新日期:1976-03-12 00:00:00
abstract::A survey of more than 21 000 haemolysates from blood samples collected in various parts of south and southeast Asia, Australasia and the Western Pacific and examined in this laboratory has revealed several new alleles controlling variants of sMDH; in addition, further information has been provided on the distribution ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00396480
更新日期:1978-07-12 00:00:00
abstract::The alphafetoprotein (AFP) concentration in maternal serum was determined before and after chorionic villus sampling (CVS). A significant increase of 20% or more in the pre-CVS level was noted immediately after sampling in 59% of 837 pregnancies indicating some degree of feto-maternal haemorrhage. The increase in the ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291241
更新日期:1988-01-01 00:00:00
abstract::Mouse mutants are a long-lasting, valuable tool to identify genes underlying eye diseases, because the absence of eyes, very small eyes and severely affected, cataractous eyes are easily to detect without major technical equipment. In mice, actually 145 genes or loci are known for anophthalmia, 269 for microphthalmia,...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-019-01995-w
更新日期:2019-09-01 00:00:00
abstract::We have studied the matrilineal genetic composition of the Madeira and Açores north Atlantic archipelagos, which were settled by the Portuguese in the 15th century. Both archipelagos, and particularly Madeira, were involved in a complex commercial network established by the Portuguese, which included the trading of sl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-1024-3
更新日期:2003-12-01 00:00:00
abstract::A new G6PD variant has been detected in a Cuban male and there is no evidence of associated hematological abnormalities. The main characteristics of this variant, moderate deficiency, slow electrophoretic mobility, increased utilization of the substrate analogues, and a different chromatographic behavior, indicate tha...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00329141
更新日期:1980-01-01 00:00:00
abstract::A retrospective study of 200 missed abortions was performed to determine whether morphological criteria alone are sufficient to ascertain a chromosomal aetiology. Placental changes were classified into five morphological and four morphometric groups, according to the severity of alterations, and were then correlated w...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00274002
更新日期:1989-07-01 00:00:00
abstract::Hybrids were performed between cell lines derived from four patients with Fanconi's anemia in which different biochemical lesions have been postulated. Complementation studies in these hybrids based on the rate of mitomycin C-induced chromosomal damage supported the concept of allelic mutations. It was therefore concl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00289479
更新日期:1983-01-01 00:00:00
abstract::Silver-stained cells from 49 parents with a history of several abortions were compared with cells from 35 parents with normal liveborn children. The modal and mean number of silver-stained NORs (Ag-NORs) observed on D- or G-group chromosomes was similar in both groups and between males and females. Ag-NORs were random...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286905
更新日期:1979-04-27 00:00:00
abstract::Lactase gene expression declines with aging (lactase non-persistence) in the majority of humans worldwide. Lactase persistence is a heritable autosomal dominant condition and has been strongly correlated with several single nucleotide polymorphisms (SNPs) located ~14-kb upstream (-13907, -13910 and -13915) of the lact...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0898-0
更新日期:2011-01-01 00:00:00
abstract::N-acetylation polymorphism is one of the representative pharmacogenetic traits that underlie interindividual and interethnic differences in response to xenobiotics. To develop a practical genotyping method to predict acetylator phenotype, we studied the conditions for accurate phenotyping, and identified the phenotype...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210758
更新日期:1992-09-01 00:00:00
abstract::A new mutant alpha-1-antichymotrypsin (variant ACT) was found by polymerase chain reaction single strand conformation polymorphism and direct sequencing. In this variant ACT, two bases (AA) were deleted from codon 391. This resulted in a different amino acid sequence downstream of the deletion point, elongating the pe...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220480
更新日期:1992-12-01 00:00:00
abstract::Dermatoglyphics of 11 patients with Wilson's disease and 16 of their clinically asymptomatic relatives of first degree were investigated; 11 of the latter ones were heterozygous in agreement with the turn over rates of Cu-67, 12 under the assumption of autosomal recessive inheritance. On the finger tips the Mb. Wilson...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00296148
更新日期:1976-02-29 00:00:00
abstract::Red blood cell esterase D (ESD) polymorphism was studied in a French-Canadian population from Quebec city, Canada, by means of high voltage electrophoresis on agarose gel followed, in heterozygotes for ESD 1, by IEF to reveal the possible allele ESD*5. Frequencies of the ESD alleles in 904 unrelated individuals were E...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00401244
更新日期:1986-07-01 00:00:00
abstract::Schizophrenia (SCZ) is a severe psychiatric illness with a lifetime prevalence of 0.4 %. A disturbance of energy metabolism has been suggested as part of the etiopathogenesis of the disorder. Several lines of evidence have proposed a connection between etiopathogenesis of SCZ and human brain evolution, which was chara...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-014-1491-8
更新日期:2015-01-01 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
pub_type: 杂志文章
doi:10.1007/BF00295409
更新日期:1978-10-31 00:00:00
abstract::Bone size (BS) is one of the major risk factors for osteoporotic fractures. BS variation is genetically determined to a substantial degree with heritability over 50%, but specific genes underlying variation of BS are still largely unknown. To identify specific genes for BS in Chinese, initial genome-wide association s...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1093-7
更新日期:2012-03-01 00:00:00
abstract::Defective function of the Sonic Hedgehog (SHH) signaling pathway is the most frequent alteration underlying holoprosencephaly (HPE) or its various clinical microforms. We performed an extensive mutational analysis of the entire human DISP1 gene, required for secretion of all hedgehog ligand(s) and which maps to the HP...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0628-7
更新日期:2009-05-01 00:00:00
abstract::Postprandial triglyceridemia is an emerging risk factor for cardiovascular disease. However, most of the genes that influence postprandial triglyceridemia are not known. We evaluated whether a common nonsynonymous SNP rs1260326/P446L in the glucokinase regulatory protein (GCKR) gene influenced variation in the postpra...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0700-3
更新日期:2009-10-01 00:00:00
abstract::A novel heterozygous TGG-->TAG (Trp-29-->Term) substitution was detected in three members of a family with inherited type 1 protein C deficiency and recurrent venous thrombosis. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00222726
更新日期:1993-03-01 00:00:00
abstract::Several single-gene disorders with clinical and radiological characteristics similar to those observed in multiple sclerosis (MS) patients have been described. To evaluate whether this phenotypic overlap can be ascribed to a common genetic etiology, 28 genes known to present pathogenic mutations for 24 of these disord...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-017-1784-9
更新日期:2017-06-01 00:00:00
abstract::Generalised lymphatic dysplasia (GLD) is characterised by extensive peripheral lymphoedema with visceral involvement. In some cases, it presents in utero with hydrops fetalis. Autosomal dominant and recessive inheritance has been reported. A large, non-consanguineous family with three affected siblings with generalise...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0766-y
更新日期:2010-02-01 00:00:00
abstract::High-density lipoprotein cholesterol (HDL-C) is a known inverse predictor of coronary heart disease (CHD) and is thus a potential therapeutic target. Cholesteryl ester transfer protein (CETP) is a key protein in HDL-C metabolism such that elevated CETP activity is associated with lower HDL-C. Currently available HDL-C...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0326-2
更新日期:2007-05-01 00:00:00
abstract::Single-copy DNA sequences defining several pseudoautosomal loci on the human sex chromosomes are shown to be highly conserved in the genome of the chimpanzee. Segregation analysis of polymorphic pseudoautosomal probes in a chimpanzee pedigree revealed that the transmission of the paternal alleles was not strictly sex-...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF01790103
更新日期:1988-11-01 00:00:00
abstract::A new procedure for determining the chromosomal origin of marker chromosomes has been carried out. The origin of marker chromosomes that were unidentifiable by standard banding techniques could be verified by reverse chromosome painting. This technique includes microdissection, followed by in vitro DNA amplification a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201567
更新日期:1994-06-01 00:00:00
abstract::Three 46,XY phenotypically male, azoospermic brothers out of thirteen sibs from a consanguineous marriage were studied and found to have a unique pattern of testicular histology with arrest of spermatogenesis at the pachytene stage of primary spermatocytes. Endocrinological evaluation showed elevated plasma luteinizin...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00295476
更新日期:1981-01-01 00:00:00
abstract::Albumin is a developmentally regulated serum protein synthesized in the liver mainly during adulthood. Family studies using variant forms of albumin established autosomal linkage between albumin and group-specific component protein (GS). Since GC has been assigned to human chromosome 4, albumin can be indirectly assig...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00304551
更新日期:1982-01-01 00:00:00
abstract::The family of diacylglycerol kinases (DAGKs) is known to play an important role in signal transduction linked to phospholipid turnover. In the fruitfly Drosophila melanogaster, a human DAGK ortholog, DGK2, was shown to underlie the phenotype of the visual mutant retinal degeneration A (rdgA). Previously, the gene enco...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050917
更新日期:1999-01-01 00:00:00
abstract::SNP rs9939609 within the fat mass and obesity associated gene (FTO) is strongly associated with adult body mass index (BMI). However, influences of FTO on longitudinal BMI change from childhood to adulthood have not been examined. Knowledge is limited on FTO, modulating the association between birth weight and longitu...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0883-7
更新日期:2010-12-01 00:00:00
abstract::Recently the defective gene locus in seven Caucasian families with the Romano-Ward form of long QT syndrome (LQT) has been mapped to chromosome 11p. To understand the molecular basis of LQT in Chinese, a three-generation family was investigated. Fourteen family members were studied and five individuals were diagnosed ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201594
更新日期:1994-10-01 00:00:00