Abstract:
:Molecular characterization of the alpha-thalassemia mutations present in nine HbH subjects from Cuba was achieved by digestion with Bam HI, Bgl II, and Apa I and hybridization with alpha- and zeta-specific probes. The results show that the molecular basis of the genetic defect is quite homogeneous, all the subjects carrying the - alpha 3.7 type I/--SEA genotype. Variations are observed in the size of the zeta polymorphic fragments.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Martinez G,Ferreira R,Hernandez A,Di Rienzo A,Felicetti L,Colombo Bdoi
10.1007/BF00290956subject
Has Abstractpub_date
1986-04-01 00:00:00pages
318-9issue
4eissn
0340-6717issn
1432-1203journal_volume
72pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Ninety-six alleles (36 alleles of Japanese and 60 of Caucasian origin) from forty-eight patients with mucopolysaccharidosis IVA were investigated for structural gene alterations using Southern blot analysis. All patients had a previously demonstrated deficiency of N-acetyl-galactosamine-6-sulfate-sulfatase and exhibit...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00208958
更新日期:1995-04-01 00:00:00
abstract::Two cases of primary ring chromosome 2 and one case of a ring secondary to a paternal 2/6 translocation are described and compared with a fourth case of ring 2 from the literature. The breakpoints in two cases are identical and the same as the breakpoint on chromosome 2 in the composite 2/6 ring. The three primary rin...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286899
更新日期:1979-04-27 00:00:00
abstract::An increased frequency of mitoses with centromere separation affecting all chromosomes was found in lymphocyte cultures from a couple with recurrent spontaneous abortions. The phenomenon was observed in both the wife and husband. The abnormal behaviour of centromeres may predispose the individual to cell division erro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF01247341
更新日期:1993-10-01 00:00:00
abstract::CAG/CTG repeat expansions cause at least 12 different neurological disorders, and additional disorders of this type probably exist. Using the repeat expansion detection (RED) assay, we identified an expanded CAG/CTG repeat in a 50-year-old woman with an autosomal dominant syndrome with prominent progressive sensory ne...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0207-0
更新日期:2006-09-01 00:00:00
abstract::The significance of short and long arm anomalies of chromosome 1 was investigated in 55 colorectal tumors comprising 41 carcinomas and 14 adenomas. The tumors were at various stages of transformation from adenoma to carcinoma. Our investigation was prompted by the observation of a p32-pter deletion on the short arm of...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00215678
更新日期:1992-02-01 00:00:00
abstract::X-linked hydrocephalus (HSAS) is the most common form of inherited hydrocephalus characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, mental retardation, clasped thumbs, and spastic paraparesis. MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) and SPG1 (X-linked com...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02185770
更新日期:1996-03-01 00:00:00
abstract::A simple routine method for detecting individuals who are heterozygous for the silent gene Gt 0 is presented. This method consists of a combination of electrophoresis and densitometry. The results confirm the theoretical expectation that these individuals would exhibit about 50% of the enzyme activity found in the cor...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278984
更新日期:1980-01-01 00:00:00
abstract::The results of a lymphocyte chromosome survey of retinoblastoma (Rb) patients using a method able to detect a relatively low proportion mosaicism of 13q14 deletion are presented. Three out of 42 Rb patients had abnormal karyotypes; two mosaic cases with the karyotype 46,XY,del(13) (q14.1q14.3)/46,XY and 46,XX,del(13)(...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278704
更新日期:1981-01-01 00:00:00
abstract::The HPS-1 gene is the first gene found to be responsible for the autosomal recessive disorder Hermansky-Pudlak syndrome (HPS). HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency, and ceroid lipofuscinosis. The HPS-1 gene has been mapped to chromosome 10q23.1-23.3 and encodes a 79-kDa p...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390051053
更新日期:2000-03-01 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::Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight o...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050348
更新日期:1997-02-01 00:00:00
abstract::Silver-Russell syndrome (SRS) is a clinically heterogeneous disorder characterised by severe in utero growth restriction and poor postnatal growth, body asymmetry, irregular craniofacial features and several additional minor malformations. The aetiology of SRS is complex and current evidence strongly implicates imprin...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1526-1
更新日期:2015-03-01 00:00:00
abstract::The concept and role of endomitosis is reevaluated in the light of observations on three organisms. Endomitosis which morphologically agrees with Geitler's (1939) classical definition is compared in tapetal cells of the liliaceous plant Eremurus, in the septal cells of the testicular follicles of the grasshopper Melan...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285390
更新日期:1983-01-01 00:00:00
abstract::By screening 27 hypercalcaemic and 21 normocalcaemic subjects in a large Dutch pedigree with familial benign hypercalcaemia (FBH; McK. No. 14598) (McKusick 1983) for more than 35 genetic markers, it was found that linkage of FBH can be excluded at about 25 centimorgans (cM) from GM, 20 cM from ABO, 15 cM from MNS and ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291409
更新日期:1984-01-01 00:00:00
abstract::Despite the identification of an increasing number of genes involved in sex determination and differentiation, no cause can be attributed to most cases of 46, XY gonadal dysgenesis, approximately 20% of 46, XX males and the majority of subjects with 46, XX true hermaphroditism. Perhaps the most interesting candidate f...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000428
更新日期:2000-12-01 00:00:00
abstract::Linkage analysis of 15 families affected by X-linked agammaglobulinaemia (XLA) showed close linkage with three probes located towards the centre of the long arm of the X chromosome. No cross-overs were found using pXG12 (DXS94) lod 6.6 or S21 (DXS17) lod 4.4. One cross-over was found with 19.2 (DXS3). This confirms an...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00272387
更新日期:1987-10-01 00:00:00
abstract::Multiple sclerosis (MS) is characterized as an autoimmune demyelinating disease. Numerous family studies have confirmed a strong genetic component underlying its etiology. After several decades of frustrating research, the advent and application of affordable genotyping of dense SNP maps in large data sets has ushered...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0789-4
更新日期:2010-03-01 00:00:00
abstract::Genetic studies in Turkish, Native American, European American, and African American (AA) families have linked chromosome 18q21.1-23 to susceptibility for diabetes-associated nephropathy. In this study, we have carried out fine linkage mapping in the 18q region previously linked to diabetic nephropathy in AAs by genot...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0732-8
更新日期:2009-12-01 00:00:00
abstract::There are two very different interpretations of the prehistory of Island Southeast Asia (ISEA), with genetic evidence invoked in support of both. The "out-of-Taiwan" model proposes a major Late Holocene expansion of Neolithic Austronesian speakers from Taiwan. An alternative, proposing that Late Glacial/postglacial se...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1620-z
更新日期:2016-03-01 00:00:00
abstract::In our studies apolipoprotein E4 (APOE4) is associated with both early- and late-onset Alzheimer's disease. Alzheimer's patients from West Texas were screened for the APOE4 allele, which was found at frequencies of 0.43 and 0.59 in familial late- and early-onset cases. Sporadic cases had lower frequencies, but they st...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00197418
更新日期:1995-11-01 00:00:00
abstract::A total of 1242 individuals from six Chinese ethnic groups were studied with respect to the glyoxalase I polymorphism using agarose gel electrophoresis. The GLO1*1 gene frequency and the number of subjects tested in each population are as follows: Uygur 0.2466 (219), Hui 0.1621 (219), Dong 0.1866 (201), Bai 0.1921 (20...
journal_title:Human genetics
pub_type: 杂志文章
doi:
更新日期:1986-11-01 00:00:00
abstract::The possible influence of the fragile X mutation at Xq27 on the expression of the neighbouring gene (at Xq26) for hypoxanthine phosphoribosyl transferase (HPRT) was studied by determination of the levels of HPRT-RNA and HPRT enzyme activity in fibroblast cell cultures from 7 fragile X patients. These levels were lower...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00197177
更新日期:1991-08-01 00:00:00
abstract::The epidemiological, teratological and genetic data on 134 index patients with omphalocele (79 isolated and 55 multiple ones) and on 134 matched controls born in Hungary 1970-1976 were studied medical records and by retrospective interview. The stillbirth rate and infant mortality are significantly higher, and there i...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282821
更新日期:1981-01-01 00:00:00
abstract::A previously identified complex mutation, affecting exon 28 of the neurofibromatosis type 1 gene, was employed for the analysis of the expression pattern in primary cultures of neurofibroma cells and melanocytes from a café-au-lait macule of the patient, respectively. Reverse transcription and subsequent polymerase ch...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220458
更新日期:1992-12-01 00:00:00
abstract::We report a Mexican family in which two sibs were identified as "classic" XX males without genital ambiguities. Molecular studies revealed that both patients were negative for several Y sequences, including SRY. A review of familial cases disclosed that this is the first family where a complete male phenotype was obse...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050561
更新日期:1997-10-01 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::Therapies for Duchenne muscular dystrophy (DMD) must first be tested in animal models to determine proof-of-concept, efficacy, and importantly, safety. The murine and canine models for DMD are genetically homologous and most commonly used in pre-clinical testing. Although the mouse is a strong, proof-of-concept model,...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-019-01976-z
更新日期:2019-05-01 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::Deficiency of liver arginase (AI) is characterized clinically by hyperargininemia, progressive mental impairment, growth retardation, spasticity, and periodic episodes of hyperammonemia. The rarest of the inborn errors of urea cycle enzymes, it has been considered the least life-threatening, by virtue of the typical a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00230212
更新日期:1993-03-01 00:00:00
abstract::We have determined the subchromosomal location of the human insulin gene by analyzing DNA isolated from sorted human metaphase chromosomes. Metaphase chromosome suspensions were sorted into fractions according to relative Hoechst fluorescence intensity by the fluorescence activated chromosome sorter. The chromosomal D...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281255
更新日期:1982-01-01 00:00:00