Abstract:
:The alpha 207 Leu-->Pro mutation in spectrin has recently been identified as a cause of alpha I/50-46a hereditary elliptocytosis (HE) or pyropoikilocytosis among Black people. We have found this mutation in a Moroccan family in both the heterozygous and homozygous states. The mutated alpha-spectrin allele carried, in cis, the alpha V/41 polymorphism, a common polymorphism altering the peptide maps and associated with a low-expression level. This is the first report of the cis combination of an HE mutation and the alpha V/41 polymorphism. Presumably, such a combination accounts for the very low expression of the abnormal allele in the heterozygous state.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Dalla Venezia N,Wilmotte R,Morlé L,Forissier A,Parquet N,Garbarz M,Rousset T,Dhermy D,Alloisio N,Delaunay Jdoi
10.1007/BF00202482subject
Has Abstractpub_date
1993-02-01 00:00:00pages
641-4issue
6eissn
0340-6717issn
1432-1203journal_volume
90pub_type
杂志文章相关文献
HUMAN GENETICS文献大全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
pub_type: 杂志文章
doi:10.1007/BF00291739
更新日期:1988-04-01 00:00:00
abstract::Fragile X-related disorders are due to a dynamic mutation of the CGG repeat at the 5' UTR of the FMR1 gene, coding for the RNA-binding protein FMRP. As the CGG sequence expands from premutation (PM, 56-200 CGGs) to full mutation (> 200 CGGs), FMRP synthesis decreases until it is practically abolished in fragile X synd...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-02104-7
更新日期:2020-02-01 00:00:00
abstract::Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in white populations. Significant regional differences in CF mutations among affected individuals have been reported. We have studied the geographic distribution of the relative frequencies of the three most common Dutch CF mutations, deltaF5...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050745
更新日期:1998-05-01 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
pub_type: 杂志文章
doi:10.1007/BF00284913
更新日期:1987-06-01 00:00:00
abstract::Intracellular phenylalanine and tyrosine was determined in lymphocytes of 10 heterozygotes (parents) for PKU and in 26 randomly collected apparently normal persons. In cells from the heterozygotes the concentrations of both phenylalanine and tyrosine were higher than in those from the normals, the difference being sta...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00569353
更新日期:1979-07-18 00:00:00
abstract::Three families with anhidrotic ectodermal dysplasia (AED) have been studied by linkage analysis with seven polymorphic DNA markers from the Xp11-q21 region. Previously reported linkage to DXYS1 (Xq13-q21) has been confirmed (z (theta) = 4.08 at theta = 0.05) and we have also established linkage to another polymorphic ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00702863
更新日期:1988-10-01 00:00:00
abstract::A new case of "free" trisomy for the short arm of No. 9 chromosome identified by Giemsa staining and "Giemsa-11 technique" is reported. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284440
更新日期:1976-09-10 00:00:00
abstract::In human females, both X chromosomes are equivalent in size and genetic content, and pairing and recombination can theoretically occur anywhere along their entire length. In human males, however, only small regions of sequence identity exist between the sex chromosomes. Recombination and genetic exchange is restricted...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF01247327
更新日期:1993-10-01 00:00:00
abstract::A functionally inactive plasminogen (PLG) variant designated as PLG M5 is polymorphic in the Japanese population and has a feature common to PLG with type-I mutation that has a codon 601 missense mutation in exon 15 (GCT for Ala-->ACT for Thr). This study was conducted to clarify whether the type-I mutation of PLG is ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210737
更新日期:1992-09-01 00:00:00
abstract::Li-Fraumeni syndrome (LFS) is characterized by a high risk of sarcomas, early onset of breast cancer, and a diversity of other cancers occurring as multiple primary tumors in multiple family members. In many families with LFS, germline mutations within the tumor-suppressor gene p53 have been identified. However, mutat...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050761
更新日期:1998-06-01 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::We tested DNA probes directly labeled by fluorescently labeled nucleotides (Cy3-dCTP, Cy5-dCTP, FluorX-dCTP) for high resolution uni- and multicolor detection of human chromosomes and analysis of centromeric DNA organization by in situ hybridization. Alpha-satellite DNA probes specific to chromosomes 1, 2, 3, 4 + 9, 5...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02185780
更新日期:1996-03-01 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::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::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::In situ hybridization experiments were carried out with two clones, YACG 35 and 2.8, which had been selected from two genomic libraries strongly enriched for the human Y chromosome. Besides the human Y chromosome, both sequences strongly hybridized to the human X chromosome, with few minor binding sites on autosomes. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286513
更新日期:1984-01-01 00:00:00
abstract::Cultured human fibroblasts and amniotic fluid cells (AF cells) were examined for the presence of steroid hormone receptors. In both cell types, the androgen (DHT) or glucocorticoid (dexamethasone) receptor was detected, but not the estrogen receptor. Binding parameters in fibroblasts were: for androgen: KD = 3.7 X 10(...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00295427
更新日期:1977-12-23 00:00:00
abstract::In the present paper an intercalary deletion of band 8q23 is reported in another patient with Langer-Giedion syndrome. These data confirm that the deletion in 8q responsible for this malformation syndrome is located at band 8q23. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00327126
更新日期:1983-01-01 00:00:00
abstract::Confined chorionic mosaicism, detected commonly on chorionic villus sampling (CVS) and occasionally in cultured amniotic fluid cells, is described in five pregnancies that showed confined chorionic mosaicism for trisomies 12, 13, 14, 17 and a marker chromosome. Cytogenetic findings in these pregnancies support the con...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00272385
更新日期:1987-10-01 00:00:00
abstract::Wegener's granulomatosis (WG) is a systemic disease with complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis and the presence of antineutrophil cytoplasmatic autoantibodies (C-ANCAs) in sera of patients. Here...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-004-1092-z
更新日期:2004-04-01 00:00:00
abstract::The author engages in further debate between numerous signatories of a letter who disputes that the author has put forward that the anticipated benefits of a personalised program for cancer prevention and screening are unwarranted. In the event that a cancer screening program is an effective means of mortality reducti...
journal_title:Human genetics
pub_type: 信件
doi:10.1007/s00439-019-01981-2
更新日期:2019-03-01 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
pub_type: 杂志文章
doi:10.1007/BF00278994
更新日期:1989-02-01 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 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
pub_type: 杂志文章,评审
doi:10.1007/BF00273442
更新日期:1985-01-01 00:00:00
abstract::A de novo translocation (X;1)(q13.1;p36.33) was found in a 2-year-old girl with typical clinical features of X-linked anhidrotic ectodermal dysplasia (EDA). The breakpoint at Xq13.1 is approximately the same as has been described in 2 other EDA females with X;autosome translocations. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00200916
更新日期:1991-07-01 00:00:00
abstract::Catalase is an important antioxidant enzyme that detoxifies H2O2 into oxygen and water and thus limits the deleterious effects of reactive oxygen species (ROS). Because chronic exposure to excess ROS may contribute to vascular damage, we investigated whether genetic variation in catalase was associated with susceptibi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100553
更新日期:2001-07-01 00:00:00
abstract::A simple and rapid technique is described whereby the nucleolus organizer regions (NORs) of human chromosomes can be differentially stained with silver. This staining is followed by trypsin-Giemsa banding on the same metaphase chromosomes. The metaphases simultaneously exhibit silver-stained NORs and G bands, allowing...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00396478
更新日期:1978-07-12 00:00:00
abstract::The cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4; CD 152) is a negative regulator of T-lymphocyte activation. Particular genotypes of the locus encoding the CTLA-4 glycoprotein have been associated with susceptibility to various autoimmune diseases. To determine their role in susceptibility to systemic lupus er...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0807-2
更新日期:2002-10-01 00:00:00
abstract::Electrophoretic study of esterase D in 1027 mother-child pairs showed an atypical segregation of EsD alleles in one pair. The family analysis confirmed the evidence of a 'silent' gene (EsD0), which was observed in child, mother and grandfather. R banding of the metaphasal chromosomes revealed the normal appearance of ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273500
更新日期:1980-02-01 00:00:00
abstract::Centromere-specific multi-color FISH (cenM-FISH) is a new multicolor FISH technique that allows the simultaneous characterization of all human centromeres by using labeled centromeric satellite DNA as probes. This approach allows the rapid identification of all human centromeres by their individual pseudo-coloring in ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100459
更新日期:2001-03-01 00:00:00