Abstract:
:Cytogenetic studies were carried out on 150 oocytes obtained in a human in vitro fertilization (IVF) program. Although all cells lacked signs of fertilization at light microscopy, 46 (30.7%) appeared to show cytological evidence of fertilization. At least one-third of these cells (with development arrested before first cleavage) had chromosomal aberrations. An aneuploidy rate of 35% was found in unfertilized oocytes. The results of this study explain some of the fertilization failures and of the failures of postfertilization development.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Pieters MH,Geraedts JP,Dumoulin JC,Evers JL,Bras M,Kornips FH,Menheere PPdoi
10.1007/BF00283693subject
Has Abstractpub_date
1989-03-01 00:00:00pages
367-70issue
4eissn
0340-6717issn
1432-1203journal_volume
81pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Male identical twins with r(18)/normal mosaicism are reported. Twin 1 has the characteristic manifestations of the r(18) syndrome, but twin 2 shows a normal phenotype. Cytogenetic study of cultured lymphocytes revealed that the proportions of r(18) are 19.7% and 19.2%, respectively. However in the fibroblast cultures,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00304559
更新日期:1982-01-01 00:00:00
abstract::Proteins were extracted from liver, brain, and skin of 6-day-old mice with trisomy (Ts) 19 and fractionated into solubilized cell proteins and structure-bound cell proteins. The proteins were separated by two-dimensional electrophoresis, and protein patterns were compared in the combinations Ts/normal and normal/norma...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291429
更新日期:1987-12-01 00:00:00
abstract:: ...
journal_title:Human genetics
pub_type: 信件
doi:10.1007/s00439-019-01984-z
更新日期:2019-03-01 00:00:00
abstract::H-Y antigen was studied serologically on blood cells and cultured fibroblasts of patients with numerical aberrations of the sex chromosomes. As compared with normal males, patients with the karyotypes 48,XXXY and 49,XXXXY have reduced H-Y antigen titers; a tendency toward reduced titers can also be detected in the 47,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00274203
更新日期:1982-01-01 00:00:00
abstract::Increasing experimental evidence supports a connection between inflammation and mitochondrial dysfunction. Both acute and chronic inflammatory diseases course with elevated free radicals production that may affect mitochondrial proteins, lipids, and mtDNA. The subsequent mitochondrial impairment produces more reactive...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-011-1057-y
更新日期:2012-02-01 00:00:00
abstract::Mutations in the cystic fibrosis (CF) conductance transmembrane regulator (CFTR) gene have been detected in patients with CF and in males with infertility attributable to congenital bilateral absence of the vas deferens (CBAVD). Thirty individuals with CBAVD and 10 with congenital unilateral absence of the vas deferen...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00209403
更新日期:1995-02-01 00:00:00
abstract::Mitochondrial DNA (mtDNA) haplogroups are valuable for investigations in forensic science, molecular anthropology, and human genetics. In this study, we developed a custom panel of 61 mtDNA markers for high-throughput classification of European, African, and Native American/Asian mitochondrial haplogroup lineages. Usi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1421-9
更新日期:2014-07-01 00:00:00
abstract::Chromosome preparations from four subjects, one normal 46,XY male and three patients with different rearrangements of chromosome 11: 46,XX,del(11)(p11.2----p15.1), 46,XY,inv(11)(p13q24.2), and 46,XY,rec(11)inv(11)(p13q24.2) pat, were utilized for in situ hybridization studies with a tritium-labeled cDNA probe containi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291645
更新日期:1985-01-01 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::To better understand the evolutionary history of the gene region containing the multifunctional adipose tissue hormone leptin, we genotyped 1,957 individuals from 12 world populations for a highly variable tetranucleotide repeat polymorphism located 476 bp 3' of exon 3 of the leptin gene. Common alleles shared among p...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0715-5
更新日期:2002-05-01 00:00:00
abstract::Genome-wide association studies (GWAS) have had a tremendous success in the identification of common DNA sequence variants associated with complex human diseases and traits. However, because of their design, GWAS are largely inappropriate to characterize the role of rare and low-frequency DNA variants on human phenoty...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1702-6
更新日期:2016-11-01 00:00:00
abstract::This paper surveys the current state of knowledge about the relationship between different national publics and biobanks, how different publics perceive biobanks, and which issues are identified as important by various stakeholders. We discuss existing studies and emerging governance strategies dealing with the bioban...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1065-y
更新日期:2011-09-01 00:00:00
abstract::Out of a population of 138,598 infants born in southern Poland between 1987 and 1989, and screened for phenylketonuria (PKU), 28 cases were ascertained probands and their parents were isolated and eight polymorphic restriction sites were analyzed within the phenylalanine hydroxylase gene region. Twenty-one different h...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00202412
更新日期:1991-01-01 00:00:00
abstract::A study was conducted on the feasibility of isolating genes and pseudogenes that map to chromosome 13 by a hybridization-based approach using a 13-specific library and pools of repeat-free cDNA clones. Five pairs of cDNA and chromosome 13 genomic clones were identified and characterized. Partial or full-length sequenc...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02267064
更新日期:1996-04-01 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::Disomy and diploidy frequencies for autosomes 1-22 and the gonosomes were assessed in 299,442 sperm nuclei from four normal fertile men by chromosome painting. This novel approach allowed us to perform a specific and sensitive detection of each chromosome. A minimum of 5000 sperm nuclei per subject were evaluated for ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050751
更新日期:1998-06-01 00:00:00
abstract::The severe neonatal centronuclear/myotubular myopathy (XLMTM) is an X-linked disorder characterized by generalized muscle weakness, hypotonia and serious respiratory insufficiency. The gene for this disease has been assigned to the long arm of chromosome X in the Xq28 band. Ca2+ ATPase isoform-3 (ATP2B3) has also been...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050284
更新日期:1996-12-01 00:00:00
abstract::Using a heteroduplex approach and direct sequencing, we have completed the screening of approximately 88% of the neurofibromatosis type 2 (NF2)-coding sequence of DNA extracted from 33 schwannomas from NF2 patients and from 29 patients with sporadic schwannomas. The extensive screening has resulted in the identificati...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050188
更新日期:1996-08-01 00:00:00
abstract::A male newborn with a ring 10 chromosome is described. The distal part of the long arm of chromosome 10, deleted during ring formation (10q25), is translocated to the short arm of chromosome 19. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293602
更新日期:1978-08-31 00:00:00
abstract::The frequencies of base-line and Mitomycin-C (MMC) induced sister chromatid exchanges (SCE) were surveyed in four inbred strains of mice. In contrast to the C57Bl/6J, CBA/J, and A/J strains where frequencies of SCE increased linearly with increasing dose of MMC, levels of SCE were significantly lower in AKR/J mice at ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278870
更新日期:1978-02-23 00:00:00
abstract::Cytogenetic analysis of 26 non-Burkitt lymphomas having abnormal clones, revealed non-random involvement of certain chromosomes in numerical and structural changes. In some cases, chromosome structural abnormalities could be correlated with histopathology of the tumours. A combined analysis of cases in the present ser...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00287055
更新日期:1980-01-01 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
pub_type: 杂志文章
doi:10.1007/s00439-018-1874-3
更新日期:2018-03-01 00:00:00
abstract::A total of 362 males from various regions of Papua New Guinea were screened for red cell glucose-6-phosphate dehydrogenase (G6PD) activity. Twenty-six G6PD deficient individuals were identified. Biochemical characterization of G6PD purified from these subjects has revealed 13 new variants and several copies of previou...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00569710
更新日期:1982-01-01 00:00:00
abstract::Steroid sulfatase (STS) activities in female fibroblast strains are significantly higher than in male strains, as determined by cleavage of dehydroepiandrosterone sulfate. The difference is probably not due to hormonal control of gene expression, but suggests that for this X-linked locus there is no gene dosage compen...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278971
更新日期:1980-01-01 00:00:00
abstract::The marriage rate of epileptic patients was 62% in males and 78% in females. Compared with the rates in the general population, the male patients had a 15% lower rate, but there was no difference in females. There were 263 patients with at least one offspring selected for the study. There were 234 sons and 272 daughte...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273256
更新日期:1977-04-15 00:00:00
abstract::The phenotypes of glyoxalase I (GLO) were determined in a random population from Hessen (Germany) by high-voltage agarose gel electrophoresis. The gene frequencies in 1150 unrelated individuals were 0.4391 for GLO1 and 0.5609 fro GLO2. Rare phenotypes were not observed. The segregation of phenotypes in 50 families an...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00295812
更新日期:1977-08-31 00:00:00
abstract::Autism spectrum disorders (ASD) are heterogeneous disorders with a high heritability and complex genetic architecture. Due to the central role of the fragile X mental retardation gene 1 protein (FMRP) pathway in ASD we investigated common functional variants of ASD risk genes regulating FMRP. We genotyped ten SNPs in ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1416-y
更新日期:2014-06-01 00:00:00
abstract::We have recently obtained evidence that the locus corresponding to three groups of partial tracheobronchial cDNAs (A = Jer47, B = Jer57, C = Jer58) which mapped to chromosome 11p15 and was given the symbol MUC5 corresponds to two distinct genes which we have provisionally called MUC5B and MUC5AC. Here we describe the ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210427
更新日期:1995-09-01 00:00:00
abstract::A method is described for large scale routine phenotyping of haptoglobin (Hp) which allows complete subtyping without prior purification of the Hp molecule. The procedure includes polyacrylamide gel isoelectric focusing of reduced, neuraminidase treated serum or plasma samples, and nitrocellulose blots developed with ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273075
更新日期:1985-01-01 00:00:00
abstract::A female child with mild dysmorphisms, motor and mental retardation had a 45,XX,-8,-8,+psu dic(8)(p23.3) karyotype in blood lymphocytes, skin fibroblasts and in a lymphoblastoid cell line. DNA analysis showed that the proposita was nullisomic for the 8pter region distal to D8S264, at less than 1 cM from the telomere. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050445
更新日期:1997-06-01 00:00:00