Abstract:
:Complex investigation of a spontaneous abortus with monosomy 21 was carried out. Phenotypic expression at the organism and tissue level was characterized by the pathology of the external form of the embryo and by abnormalities of the embryonic facial structures, the stomodeum, the anterior part of the primary gut, and neural tube development. The anomalies found in the embryo indicate primary morphogenetic disturbances arising at the initial stage of organogenesis. Investigation of LHC-431 strain cells derived from musculocutaneous embryonic fragments revealed a complex of cytophenotypic alterations similar to the cellular syndrome of trisomic cells and indicating an insufficient biologic maturity of the mutant cells (alterations of cellular form, disturbances in their contact orientation, underdevelopment of fibrillar apparatus and decreased collagen formation, changes in the accumulation of intracellular metabolic products, decreased growth capacity and alterations of mitotic cycle parameters). It was found that the single chromosome 21 takes part in assocations twice as frequently as would theoretically be expected.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Kuliev AM,Grinberg KN,Kukharenko VI,Kulazenko VP,Bogomazov EAdoi
10.1007/BF00527395subject
Has Abstractpub_date
1977-09-22 00:00:00pages
137-45issue
2eissn
0340-6717issn
1432-1203journal_volume
38pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::The noninvasive method presented, using an "air culturing" technique, is capable of enriching for fetal cells in lymphocyte cultures of maternal blood. Through a combination of Y-body fluorescence and chromosomal heteromorphisms in the maternal blood, the fetal cells can be detected and used for the prenatal diagnosis...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282176
更新日期:1988-08-01 00:00:00
abstract::African Americans have increased susceptibility to non-diabetic (non-DM) forms of end-stage renal disease (ESRD) and extensive evidence supports a genetic contribution. A genome-wide association study (GWAS) using pooled DNA was performed in 1,000 African Americans to detect associated genes. DNA from 500 non-DM ESRD ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0842-3
更新日期:2010-08-01 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::Lod scores are reported for 86 biochemical to cytogenetic marker comparisons in Black kindred. Analysis with unconfirmed locus assignments resulted in 12 exclusions of close linkage. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00290217
更新日期:1980-01-01 00:00:00
abstract::The authors report the results of a genetic analysis performed in 34 neurofibromatosis type 1 (NF1) Italian families using five loci tightly linked to NF1: D17S33, D17S82, D17S83, D17S37, and D17S36. A two-point linkage analysis was performed with the LINKAGE and the CRI-MAP programs. The map of the region was constru...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF01213101
更新日期:1991-05-01 00:00:00
abstract::Case-control genetic association studies in admixed populations are known to be susceptible to genetic confounding due to population stratification. The transmission/disequilibrium test (TDT) approach can avoid this problem. However, the TDT is expensive and impractical for late-onset diseases. Case-control study desi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-0080-2
更新日期:2006-01-01 00:00:00
abstract::A study of 491 patients with femur-fibula-ulna (FFU) complex is presented. The term FFU complex has been proposed for cases in which the femur, fibula and/or ulna show defects, which tend to be associated. These cases are usually sporadic. Some rare anomalies of the arms which are present are particularly frequent in ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00217355
更新日期:1993-05-01 00:00:00
abstract::Carriers of the deltaccr5 allele, which contains a deletion of 32 bases in relation to the normal allele of the beta-chemokine receptor gene (CCR5), have increased resistance to HIV-1 infection. The higher frequency of this mutation in Europeans than in Blacks and Asians, has generated interest in determining its dist...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390051128
更新日期:1999-11-01 00:00:00
abstract::The genetic types of the properdin factor B were analyzed by isoelectric focusing on polyacrylamide gels and subsequent immunofixation. Sera from 516 unrelated, healthy individuals from Southern Germany were examined. Two new subtypes of the Bf*S allele were observed. They were provisionally named Bf*Sb1 and Bf*Sb2(b ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293880
更新日期:1984-01-01 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::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::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::Beta-2 microglobulin (B2M) is a component of the major histocompatibility complex (MHC) class I molecule and has been studied as a biomarker of kidney function, cardiovascular diseases and mortality. Little is known about the genes influencing its levels directly or through glomerular filtration rate (GFR). We conduct...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1274-7
更新日期:2013-06-01 00:00:00
abstract::The sex of a conceptus at the early embryonic state was diagnosed in 1000 induced abortions. Specimens were obtained from women who terminated their pregnancies within 12 menstrual weeks on socio-economic indications. By making use of the triple checking procedures, such as the karyotypic analysis of Giemsa-stained sl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00446275
更新日期:1977-05-10 00:00:00
abstract::To help unravel some of the early Eurasian steppe migration movements, we determined the Y-chromosomal and mitochondrial haplotypes and haplogroups of 26 ancient human specimens from the Krasnoyarsk area dated from between the middle of the second millennium BC. to the fourth century AD. In order to go further in the ...
journal_title:Human genetics
pub_type: 历史文章,杂志文章
doi:10.1007/s00439-009-0683-0
更新日期:2009-09-01 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::Ehlers-Danlos syndrome (EDS) type I is a generalized connective tissue disorder, the major manifestations of which are soft, velvety hyperextensible skin and moderately severe joint hypermobility. The gene defect or defects causing EDS type I have not yet been defined, but previous observations suggested that the synd...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00206058
更新日期:1991-12-01 00:00:00
abstract::The human gene locus c-MEL was identified following transfection of genomic DNA from the human melanoma cell line NK14; it has previously been assigned to chromosome 19 (p13.2-q13.2) by analysis of somatic cell hybrids. We have further refined the position of this gene to the proximal region of 19p (cen-p13.2), using ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283697
更新日期:1989-03-01 00:00:00
abstract::Spermatozoa contain highly specialized structural features reflecting unique functions required for fertilization. Among them, the flagellum is a sperm-specific organelle required to generate the motility, which is essential to reach the egg. The flagellum integrity is, therefore, critical for normal sperm function an...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-020-02113-x
更新日期:2020-01-16 00:00:00
abstract::Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder characterised by muscle weakness and wasting. There are two forms of DM; both of which are caused by the expansion of repeated DNA sequences. DM1 is associated with a CTG repeat located in the 3' untranslated region of a gene, DMPK and DM2 with a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0228-8
更新日期:2006-11-01 00:00:00
abstract::Association studies for complex diseases based on pedigree haplotype or genotype data have received increasing attention in the last few years. The similarity tests are appealing for these studies because they take into account of the DNA structure, but they have blind areas on which significant association can not be...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0376-5
更新日期:2007-08-01 00:00:00
abstract::Microsatellite markers RS46 (DXS548) and FRAXAC2 flanking the fragile X mutation, an expansion of a (CGG)n repeat within the FMR-1 gene, were typed in 60 unrelated northern and eastern Finnish fragile X families and in a control population from the same geographical region. A significant difference was found in alleli...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00211011
更新日期:1994-11-01 00:00:00
abstract::The fatty acid-binding proteins (FABPs) are cytoplasmic proteins involved in intracellular fatty acid transport and metabolism. FABP2, the intestinal-type FABP, is expressed exclusively in enterocytes in the small intestine. In previous studies of an Ala54Thr substitution in FABP2, the Thr-allele showed association wi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-0937-1
更新日期:2003-05-01 00:00:00
abstract::A C4 variant found in about 5% of the population is described. The fast-moving part of this variant is governed by an allele (Fx) codominant to F. The Fx allele is in very strong linkage disequilibrium with HLA-B17 as the linkage disequilibrium parameter accounted for nearly 100% of the haplotype frequency of B17,Fx. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00289447
更新日期:1979-01-01 00:00:00
abstract::We have previously identified a mutation in the gene for methylmalonyl CoA mutase in a patient with the mut- phenotype of methylmalonic aciduria. This mutation (G717V) interferes with the binding of the deoxyadenosylcobalamin cofactor to the apoenzyme producing a mutant holoenzyme that is defective, but not completely...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220536
更新日期:1992-05-01 00:00:00
abstract::Seven patients are described who have some or all of the symptoms of Prader-Willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The chromosome abnormal...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00292373
更新日期:1983-01-01 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::Familial long QT syndrome (LQTS) is characterized by prolonged ventricular repolarization. Clinical symptoms include recurrent syncopal attacks, and sudden death may occur as a result of ventricular tachyarrhythmias. Three genes responsible for this syndrome (KVLQT1, HERG, and SCN5A) have been identified so far, and m...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050717
更新日期:1998-04-01 00:00:00
abstract::We report the spectrum of mutations and associated modified haplotypes in patients with phenylketonuria living in Germany. A total of 546 independent alleles was investigated, including 411 of German and 65 of Turkish descent. Mutations were identified for 535 PKU alleles (98%) and there were 91 different mutations. T...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050973
更新日期:1999-05-01 00:00:00
abstract::This study reports the characterization of 60% of low density lipoprotein receptor (LDLR) gene mutations in 150 unrelated Greek familial hypercholesterolaemia (FH) heterozygous children by the analysis of six LDLR gene mutations. The linkage disequilibrium of two polymorphic microsatellites (D19S394 and D19S221) flank...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050703
更新日期:1998-03-01 00:00:00