Abstract:
:Peripheral blood lymphocytes from eight Fanconi anemia (FA) patients, 14 FA heterozygotes, and nine normal subjects have been tested for their susceptibility to chromosomal breakage induction by diepoxybutane (DEB) and by two peroxides. In addition, the effect of five antioxidants was investigated in standard cultures and in cultures stressed either with DEB or with butylhydroperoxide (BHP) or with hydrogen peroxide (H2O2). DEB, BHP, and H2O2 dramatically increased the chromosomal breakage levels in homozygous and heterozygous FA cells. A partial correction of chromosomal instability was obtained by treating the patients' lymphocytes with antioxidants. A "protective" effect was also noted in the DEB or peroxide-stressed lymphocytes of patients and heterozygotes, grown in the presence of antioxidants.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Dallapiccola B,Porfirio B,Mokini V,Alimena G,Isacchi G,Gandini Edoi
10.1007/BF00295530subject
Has Abstractpub_date
1985-01-01 00:00:00pages
62-5issue
1eissn
0340-6717issn
1432-1203journal_volume
69pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Rearrangement of the breakpoint cluster region (bcr) and the chromosomal location of c-abl and 3'-bcr were studied in two patients with Philadelphia chromosome (Ph1)-negative chronic myelocytic leukemia (CML). One patient (patient 1) had a normal karyotype and the other (patient 2), 46,XY,inv(3)(q21q26). Both patients...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286701
更新日期:1989-09-01 00:00:00
abstract::We describe two polymorphic microsatellites in intron 27 of the neurofibromatosis type 1 (NF1) gene. The microsatellites consist of TG/AC and AC/TG dinucleotide repeats detecting five and seven alleles and with heterozygosities of 0.46 and 0.72, respectively. These microsatellites are useful tools both for direct and ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00212039
更新日期:1994-03-01 00:00:00
abstract::The Wiskott-Aldrich syndrome protein (WASP) gene was found to be mutated in patients presenting with WAS and in patients showing X-linked thrombocytopenia. Mutation analysis in 19 families of German, Swiss and Turkish descent by single-strand conformation polymorphism and sequencing resulted in the detection of seven ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050162
更新日期:1996-07-01 00:00:00
abstract::The consanguinity of parents (born in France) of individuals who have a recessive disease has been studied. The frequency of first cousin marriages is less than 0.2% in the general French population. Among the parents of affected individuals the following frequencies of first cousin matings were observed: cystic fibro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00527398
更新日期:1977-09-22 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::Autosomal dominant polycystic kidney disease (ADPKD) is one of the most commonly inherited renal diseases. ADPKD is a genetically heterogeneous disorder involving at least three different genes. PKD1, the major locus mapped to chromosome 16p13.3 accounts for approximately 85% of ADPKD cases. The search for mutations i...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390051094
更新日期:1999-09-01 00:00:00
abstract::Congenital atrichia is a rare autosomal recessive disorder of hair development, characterized by complete loss of hair shortly after birth. Evidence of linkage to chromosome 8p12 has been established, implicating the human homolog of the mouse hairless (hr) gene as a candidate gene. We have previously identified misse...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050840
更新日期:1998-10-01 00:00:00
abstract::Three hundred four HLA-A : HLA-B : Bf haplotypes of the Japanese population as deduced by family analysis are described. Several linkage disequilibriums were observed in the following two-factor haplotypes: HLA-A and HLA-B, HLA-A and Bf, and HLA-B and Bf. Positive linkage disequilibriums between HLA-A and HLA-B noted ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283399
更新日期:1979-10-02 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
pub_type: 杂志文章
doi:10.1007/BF00291917
更新日期:1979-01-25 00:00:00
abstract::This paper describes two families in which four boys and two girls were affected with geroderma osteodysplastica. The major features of this syndrome include a droopy, jowly, prematurely aged appearance that has been likened by previous authors to the dwarfs in Walt Disney's 'Snow White.' Also, their skin lacks normal...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00272192
更新日期:1978-02-16 00:00:00
abstract::Malaysians of Malay, Chinese, and Indian ancestries were electrophoretically phenotyped for Amy1 and saliva esterase region 1 (Set-1) from saliva, Amy2 from plasma, soluble and mitochondrial GOT and PGM3 from leukocyte and placenta. Kadazans and Bajaus, the indigenous people of Sabah, East Malaysia were surveyed for A...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284769
更新日期:1978-04-24 00:00:00
abstract::The centromeric regions of cattle, goat and sheep chromosomes bind anti-5-MeC as revealed by immunofluorescence technique, indicating concentration of 5-MeC at these heterochromatic regions. The centromere of the submetacentric X of cattle remains nearly unstained and so do the centromeres of the acrocentric X chromos...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00270395
更新日期:1976-01-28 00:00:00
abstract::Chromosomal studies of the bone marrow and cultured peripheral blood cells in a 42-year-old female with the clinical and laboratory features typical for CML revealed a previously undescribed variant translocation involving chromosomes 12 and 22. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00287017
更新日期:1977-11-10 00:00:00
abstract::Stroke is a common complex trait and does not follow Mendelian pattern of inheritance. Gene-gene or gene-environment interactions may be responsible for the complex trait. How the interactions contribute to stroke is still under research. This study aimed to explore the association between gene-gene interactions and s...
journal_title:Human genetics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00439-009-0659-0
更新日期:2009-06-01 00:00:00
abstract::High throughput sequencing methods have completely transformed the study of human Y chromosome variation by offering a genome-scale view on genetic variation retrieved from ancient human remains in context of a growing number of high coverage whole Y chromosome sequence data from living populations from across the wor...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-017-1773-z
更新日期:2017-05-01 00:00:00
abstract::Genetics-associated asthenoteratozoospermia is often seen in patients with multiple morphological abnormalities of the sperm flagella (MMAF). Although 24 causative genes have been identified, these explain only approximately half of patients with MMAF. Since sperm flagella and motile cilia (especially respiratory cili...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02241-4
更新日期:2021-01-03 00:00:00
abstract::Eleven families segregating for the X-linked recessive immune deficiency disorder, Wiskott-Aldrich syndrome (WAS), were studied by linkage analysis with an alpha satellite DNA probe, pBamX-7, which detects polymorphisms at the X chromosome centromere, locus DXZ1, as well as three other polymorphic markers defining loc...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285161
更新日期:1989-10-01 00:00:00
abstract::A slight increase in mean corpuscular hemoglobin (MCH) has been reported in erythrocytes from human fragile X patients. As it is difficult to perform case-controlled studies in patients with fragile X syndrome, we studied MCH in erythrocytes from transgenic mice with an Fmr1 knockout. None of the knockout mice showed ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00218832
更新日期:1996-01-01 00:00:00
abstract::The human eye color is a quantitative trait displaying multifactorial inheritance. Several studies have shown that the OCA2 locus is the major contributor to the human eye color variation. By linkage analysis of a large Danish family, we finemapped the blue eye color locus to a 166 Kbp region within the HERC2 gene. By...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0460-x
更新日期:2008-03-01 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
pub_type: 杂志文章
doi:10.1007/BF00220066
更新日期:1992-11-01 00:00:00
abstract::The vasopressin V2 receptor (V2R) and the aquaporin-2 genes of two unrelated male patients with congenital nephrogenic diabetes insipidus were analyzed. The V2R gene of the patient of family 1 had the wild-type sequence. Consequently, the coding region of the aquaporin-2 gene including the exon-intron junctions was se...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050264
更新日期:1996-11-01 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
pub_type: 杂志文章
doi:10.1007/BF00287012
更新日期:1977-11-10 00:00:00
abstract::The extent of linkage equilibrium was estimated among four recently characterized human fibrinogen restriction fragment length polymorphisms (RFLPs) using a randomly selected group of 110 individuals from California. Two coding region RFLPs, RsaI and MnlI (FGA codon 312 and FGB codon 448, respectively), and two RFLPs ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00202863
更新日期:1994-08-01 00:00:00
abstract::Sample of 981 and 998 South African Negroes belonging to seven different ethnic groups were screened for G-6-PD and 6-PGD phenotypes, respectively. The results are discussed in terms of the interethnic variability and the possible adaptive values of these genetic polymorphisms. Particular attention is paid to the geog...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278978
更新日期:1980-01-01 00:00:00
abstract::Premature ovarian failure (POF) is an unexplained amenorrhoea (>6 months) with raised levels of gonadotropins (FSH>40 U/L) occurring before the age of 40 years. Recent studies have elucidated the role of oocyte derived growth factors (BMP15 and GDF9) in maintenance of folliculogenesis, granulosa cell (GC) proliferatio...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0150-0
更新日期:2006-05-01 00:00:00
abstract::To understand the effects of the interaction between genetic polymorphisms and obesity on the risk of hypertriglyceridemia (HTG), two polymorphisms, an SstI polymorphism on the apolipoprotein CIII gene and a HindIII polymorphism on the lipoprotein lipase gene, were analyzed in 339 Chinese subjects with (82 cases in th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050511
更新日期:1997-09-01 00:00:00
abstract::Two single point mutations in the alpha-1-antitrypsin gene, resulting in AAT deficiency, have been characterised in heterozygotes by DNA amplification and direct sequencing. The mutations result in amino acid substitutions, Gly115----Ser and Ser-19----Leu, in the leader sequence, respectively, and have been designated...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00194233
更新日期:1990-10-01 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::Infertility affects 10% of reproductive-age women and is extremely heterogeneous in etiology. The genetic contribution to female infertility is incompletely understood, and involves chromosomal and single-gene defects. Our aim in this study is to decipher single-gene causes in infertile women in whom endocrinological,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02143-5
更新日期:2020-05-01 00:00:00
abstract::Common variable immunodeficiency (CVID, OMIM 240500) and selective immunoglobulin A deficiency (IgAD) are the most frequent primary immunodeficiencies in humans. Of the cases with CVID/IgAD, 20%-25% are familial, but the only previous claims of linkage or association are to the HLA region on chromosome 6p. We report t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0890-4
更新日期:2003-04-01 00:00:00