Abstract:
:The erythrocytic and liver pyruvate kinases (PK) from a patient with congenital nonspherocytic hemolytic anemia have been studied. In red blood cells, the residual activity, 28% of the normal control, presented normal kinetic properties, instability to heat and urea, and slow electrophoretic mobility. The L-type PK from the patient's liver was characterized by normal activity, kinetic properties, stability to heat and urea, and electrophoretic mobility. The fact that erythrocyte mutant PK may, as in previous reports, or may not be associated, as in the present observation, with molecular abnormalities of the liver PK provides support for the hypothesis of a gene rearrangement compatible with two different tissue-specific mRNAs.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Etiemble J,Picat C,Boivin Pdoi
10.1007/BF00296454subject
Has Abstractpub_date
1982-01-01 00:00:00pages
256-8issue
3eissn
0340-6717issn
1432-1203journal_volume
61pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::As evidenced by a large pedigree with 21 affected members, acrokeratoelastoidosis (AKE) is an autosomal dominant skin disease (10185; McKusick 1978). Linkage with genetic markers already assigned to human chromosomes could help to map the gene for this disease. Therefore 22 markers were investigated in 61 members of t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284653
更新日期:1983-01-01 00:00:00
abstract::The WT1 gene is normally expressed during gonadal development and specific mutations in heterozygous form cause Drash syndrome, characterized by male pseudohermaphroditism and gonadal dysgenesis, renal failure and a predisposition for Wilms' tumour. These observations prompted us to test whether WT1 mutations are invo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00214195
更新日期:1995-07-01 00:00:00
abstract::The majority of constitutional reciprocal translocations appear to be unique rearrangements arising from independent events. However, a small number of translocations are recurrent, most significantly the t(11;22)(q23;q11). Among large series of translocations there may be multiple independently ascertained cases with...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-008-0611-8
更新日期:2009-03-01 00:00:00
abstract::B-globin haplotypes of 20 beta-thalassemia (beta-thal) and 87 beta(A) Mexican mestizo chromosomes were analyzed to ascertain the origin of the beta-thal alleles and the frequencies and distribution of the beta(A) haplotypes among northwestern Mexican mestizos. Sixteen beta-thal chromosomes carried six Mediterranean al...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050395
更新日期:1997-04-01 00:00:00
abstract::Uniparental disomy (UPD) is defined as the presence of a chromosome pair that derives from only one parent in a diploid individual. The human TRKA gene on chromosome 1q21-q22 encodes a receptor tyrosine kinase for nerve growth factor and is responsible for an autosomal recessive genetic disorder: congenital insensitiv...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000369
更新日期:2000-09-01 00:00:00
abstract::We compared the fragile X (fraX) expression in T and B lymphocytes from four hemizygous males with fraX. Blood cultures were stimulated with a T cell mitogen (phytohemagglutinin:PHA) and with a B cell mitogen (pokeweed mitogen:PWM). A significant decrease in fraX expression was observed in cultures stimulated with PWM...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273003
更新日期:1984-01-01 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
pub_type: 杂志文章
doi:10.1007/BF00208969
更新日期:1995-04-01 00:00:00
abstract::High-throughput DNA sequencing (HTS) is of increasing importance in the life sciences. One of its most prominent applications is the sequencing of whole genomes or targeted regions of the genome such as all exonic regions (i.e., the exome). Here, the objective is the identification of genetic variants such as single n...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-012-1213-z
更新日期:2012-10-01 00:00:00
abstract::A polymorphic BamHI site was located in the coding region of the human T cell receptor delta gene TCRDV2. Two alleles defined by the absence or the presence of the BamHI site were detected by the polymerase chain reaction. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00216155
更新日期:1993-08-01 00:00:00
abstract::The Beckwith-Wiedemann syndrome (BWS) is characterised by multiple congenital abnormalities, including exomphalos, macroglossia, and gigantism. It is also associated with an elevated risk of embryonal neoplasia and occasionally with constitutional anomalies of chromosome band 11p15. A common pathogenetic mechanism for...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00280564
更新日期:1988-06-01 00:00:00
abstract::Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). This frequently occurs as a new mutation, manifes...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-004-1151-5
更新日期:2004-08-01 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
pub_type: 杂志文章,评审
doi:10.1007/s00439-017-1779-6
更新日期:2017-06-01 00:00:00
abstract::The effect of treatment with 8-methoxypsoralen (8-MOP) plus near-UV radiation (UVA) or with X-rays on the rate of DNA semi-conservative synthesis of fibroblasts from 10 Fanconi anemia (FA), two heterozygous, and three normal cell lines was studied. Following treatments with either X-rays or low doses of 8-MOP plus UVA...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273448
更新日期:1985-01-01 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
pub_type: 杂志文章
doi:10.1007/BF00295367
更新日期:1985-01-01 00:00:00
abstract::The association between trisomy 21 and a high incidence of atrioventricular canal defects (AVCDs) indicates that a locus on chromosome 21 is involved in this congenital heart defect. We have investigated whether a genetic locus on chromosome 21 is also involved in familial nonsyndromic AVCDs. Short tandem repeat polym...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210591
更新日期:1994-02-01 00:00:00
abstract::Densitometric C-band measurements in chromosomes 1, 9, and 16 of 394 Indians and 40 Caucasoids living in Brazil are reported. No significant intratribal variability in the average length of these regions was observed, and the intertribal variation showed no consistent patterns. But the Caucasoids always presented lowe...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00271168
更新日期:1981-01-01 00:00:00
abstract::This review is based on a thorough description of the structure and sequence organization of tandemly organized repetitive DNA sequence families in the human genome; it is aimed at revealing the locus-specific sequence organization of tandemly repetitive sequence structures as a highly conserved DNA sequence code. The...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF00196228
更新日期:1990-03-01 00:00:00
abstract::Five families with at least three generations of members affected with autosomal dominant spinocerebellar ataxia (SCA) were studied. HLA typing was carried out and the coded HLA haplotypes were used to calculate the likelihood of linkage using the LIPED computer program. The combined lod scores from these five familie...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00290959
更新日期:1986-04-01 00:00:00
abstract::Two major obstetric diseases, preeclampsia (PE), a pregnancy-induced endothelial dysfunction leading to hypertension and proteinuria, and intra-uterine growth-restriction (IUGR), a failure of the fetus to acquire its normal growth, are generally triggered by placental dysfunction. Many studies have evaluated gene expr...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02248-x
更新日期:2021-01-12 00:00:00
abstract::The frequency of alleles for intragenic (intron 17 and intron 25) and extragenic (DXS15 and DXS52) F8C RFLPs was investigated in the Algerian population. Altogether 287 X chromosomes (97 males and 95 females) were studied. The allele frequencies found with the two intragenic F8C RFLPs were not substantially different ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00195808
更新日期:1990-04-01 00:00:00
abstract::A pachytene chromomere map of bivalent 10 is presented. Recent results from high-resolution metaphase banding document a similar pattern of intrachromosomal differentiation. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00271567
更新日期:1979-11-01 00:00:00
abstract::This study was undertaken to evaluate the efficiency of flow cytometry in the detection of the serological H-Y antigen, and to survey expression of H-Y in the normal human population. Peripheral blood leukocytes (granulocytes) were reacted with monoclonal H-Y antibody, gw-16, and with FITC-conjugated goat anti-mouse I...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00276339
更新日期:1990-06-01 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::This paper presents some characteristics of the population genetics of primary congenital glaucoma in Slovakia. The overall incidence in Slovakia is 1:10,500, while being 1:1,250 in the Gypsy subpopulation of Slovakia and 1:22,000 in the non-Gypsy population. For a special type of congenital primary glaucoma, transmit...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00296440
更新日期:1982-01-01 00:00:00
abstract::Three prostate cancer susceptibility genes have been reported to be linked to different regions on chromosome 1: HPC1 at 1q24-25, PCAP at 1q42-43, and CAPB at 1p36. Replication studies analyzing each of these regions have yielded inconsistent results. To evaluate linkage across this chromosome systematically, we perfo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100488
更新日期:2001-04-01 00:00:00
abstract::A ring chromosome No. 13 was found in a 21-year-old female with multiple anomalies suggestive of 13q--syndrome. Chromosomes of the girl and her parents, studied by quinacrine staining, revealed the ring to be of paternal origin. Detailed study of the quinacrine banding pattern of the ring indicated loss of the most di...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281894
更新日期:1976-07-27 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::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
pub_type: 杂志文章
doi:10.1007/BF00278943
更新日期:1981-05-01 00:00:00
abstract::The predisposing genetic defect in multiple endocrine neoplasia type 1 has been assigned to chromosomal region 11q13. Our previous attempts to identify the MEN1 gene have resulted in the isolation of the phospholipase C beta 3 gene from the actual region. PLCB3 plays an important role in signal transduction and, moreo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050326
更新日期:1997-01-01 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
pub_type: 杂志文章
doi:10.1007/BF00293782
更新日期:1977-06-10 00:00:00