Abstract:
:Hypohaptoglobinaemia and ahaptoglobinaemia occurred in three generations, mainly to male members of a family. Also small amounts of haptoglobin were detected in most of the female relatives. Haemolytic anaemia seemed likely and the glucose 6 phosphate dehydrogenase (G.6.P.D.) activity was normal. The probable genotype of these apparently healthy individuals was Hp2/Hp2. These preliminary data might suggest a defect in control of gene expression by steroid hormones.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Lefranc G,Lefranc MP,Seger J,Salier JP,Chakhachiro L,Loiselet Jdoi
10.1007/BF00294926subject
Has Abstractpub_date
1981-01-01 00:00:00pages
294-7issue
3eissn
0340-6717issn
1432-1203journal_volume
58pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::We have described a novel human globin gene mutation that produced in a Japanese family the beta-thalassemia phenotype through a post-translational mechanism. Substitution of proline for leucine at position 110 in the G-helix of the beta-globin chain greatly reduced the molecular stability of the beta-globin subunit, ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00451448
更新日期:1988-09-01 00:00:00
abstract::Thymidylate synthase (TYMS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) may compete for their common cofactor 5,10-methylenetetrahyhdrofolate (5,10-meTHF). Limiting 5,10-meTHF results in elevated homocysteine, especially in individuals homozygous for the T allele of the MTHFR C677T polymorphism. The TYMS gene...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-1039-9
更新日期:2004-01-01 00:00:00
abstract::B-globin haplotypes of 20 beta-thalassemia (beta-thal) and 87 beta(A) Mexican mestizo chromosomes were analyzed to ascertain the origin of the beta-thal alleles and the frequencies and distribution of the beta(A) haplotypes among northwestern Mexican mestizos. Sixteen beta-thal chromosomes carried six Mediterranean al...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050395
更新日期:1997-04-01 00:00:00
abstract::Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase. To date, four mutations of the gene have been reported. We report here another mutation in two Japanese families with HCP, which was revealed by analysis of polymerase chain reaction (PCR)-ampl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050338
更新日期:1997-02-01 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::Pediatric cataracts are observed in 1-15 per 10,000 births with 10-25 % of cases attributed to genetic causes; autosomal dominant inheritance is the most commonly observed pattern. Since the specific cataract phenotype is not sufficient to predict which gene is mutated, whole exome sequencing (WES) was utilized to con...
journal_title:Human genetics
pub_type: 临床试验,杂志文章
doi:10.1007/s00439-013-1289-0
更新日期:2013-07-01 00:00:00
abstract::Single base substitutions in DNA mismatch repair genes which are predicted to lead either to missense or silent mutations, or to intronic variants outside the highly conserved splicing region are often found in hereditary nonpolyposis colorectal cancer (HNPCC) families. In order to use the variants for predictive test...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-0107-8
更新日期:2006-03-01 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::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
abstract::Published data on the association between FAS -1,377 G/A polymorphism and cancer risk are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. A total of 17 studies including 10,564 cases and 12,075 controls were involved in this meta-analysis. Overall, significantly el...
journal_title:Human genetics
pub_type: 杂志文章,meta分析
doi:10.1007/s00439-009-0639-4
更新日期:2009-05-01 00:00:00
abstract::The inactivated X chromosome has a site of unusually frequent folding in region Xq1, whereas a fold in Xq1 is uncommon on the active X. We investigated the pattern of X chromosome folding in high-resolution GTG- and RBG-stained preparations from four women. In early metaphase cells, slightly more than 50% of late-repl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284715
更新日期:1987-09-01 00:00:00
abstract::Loss-of-function mutations in several different neuronal pathways have been related to intellectual disability (ID). Such mutations often are found on the X chromosome in males since they result in functional null alleles. So far, microdeletions at Xq24 reported in males always have been associated with a syndromic fo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1322-3
更新日期:2013-10-01 00:00:00
abstract::Every author has erroneously been assigned to the affiliation "62". The affiliation 62 belongs to the author Graham Casey. ...
journal_title:Human genetics
pub_type: 已发布勘误
doi:10.1007/s00439-019-02030-8
更新日期:2019-07-01 00:00:00
abstract::We investigated whether a G123-->A mutation causing a Gly40-->Ser substitution in exon 2 of the human glucagon receptor gene, which has been reported to be associated with non-insulin-dependent diabetes mellitus (NIDDM) and impaired glucose tolerance (IGT) in France and Sardinia with a prevalences as high as 4.6% and ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050274
更新日期:1996-12-01 00:00:00
abstract::To provide a more precise genetic map of the p22.3-p21.2 region on the short arm of the human X chromosome, we performed multilocus linkage studies in an expanded database including 31 retinoschisis families and 40 normal families. Twelve loci from this region were examined. Although significant lod scores were observ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201548
更新日期:1991-04-01 00:00:00
abstract::Familial and twin studies have shown that the individual variability of the normal human electroencephalogram (EEG) is largely genetically determined. In epileptology, these genetic parameters of the EEG background activity are almost totally neglected. The aim of the present study has been to investigate whether a sp...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210302
更新日期:1995-12-01 00:00:00
abstract::Genetic polymorphisms in the apolipoprotein B (apoB) gene have been reported to be associated with altered serum lipids and susceptibility to cholesterol gallstones (GS). Gallstones are among the well-known risk factors for carcinoma of the gallbladder (GBC). In the present study, the association between the XbaI poly...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-1056-8
更新日期:2004-02-01 00:00:00
abstract::Congenital tufting enteropathy (CTE) is a rare and severe enteropathy recently ascribed to mutations in the epcam gene. Here we establish SPINT2, previously ascribed to congenital sodium diarrhea, as a second gene associated with CTE and report molecular and immunohistochemistry data in 57 CTE patients. Inclusion crit...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1380-6
更新日期:2014-03-01 00:00:00
abstract::The ERM proteins, ezrin, radixin, and moesin, act as linkers between the plasma membrane and actin cytoskeleton. They are involved in a variety of cellular functions, such as cell adhesion, migration, and the organization of cell surface structures, and are highly homologous, both in protein sequence and in functional...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050888
更新日期:1998-12-01 00:00:00
abstract::The precise chromosomal localization of the gene for dentatorubral-pallidoluysian atrophy (DRPLA) was detected by deletion mapping. Segregation patterns of genotypes of polymerase chain reaction products of DRPLA, von Willebrand factor (F8vWF), antigen CD4(p55) (CD4) and parathyroid hormone-like hormone (PTHLH) loci w...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00218841
更新日期:1996-01-01 00:00:00
abstract::We have examined the c-Ha-ras locus in 145 cancer patients of a mixed group and 164 normal individuals in Japan for restriction fragment length polymorphisms and compared the allele distributions in normal and cancer populations. The c-Ha-ras gene is highly polymorphic in Japanese as previously reported in Caucasians....
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282164
更新日期:1988-08-01 00:00:00
abstract::The cDNA clone encoding human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-1 (GalNAc-T1) was isolated from colon tissue by a reverse transcriptase-polymerase chain reaction (RT-PCR). Using fluorescence in situ hybridization, the position of the GalNAc-T1 gene was shown to be localiz...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050359
更新日期:1997-03-01 00:00:00
abstract::Vascular twin nevi, i.e., telangiectatic nevus and nevus anemicus occurring together and adjacent to each other, can be explained as twin spots resulting from a somatic recombination. It is so far unclear, however, whether the postulated underlying autosomal recessive mutations are allelic. This problem can be approac...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF00202421
更新日期:1991-01-01 00:00:00
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::The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. Patients with germli...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-017-1766-y
更新日期:2017-04-01 00:00:00
abstract::Human tumor cells, after x-irradiation during the G2 phase of the cell cycle, show an abnormally high frequency of persistent chromatid breaks and gaps resulting from deficient DNA repair. Addition of a single human chromosome 11 from normal fibroblasts by micro-cell fusion to cell lines from six different tumors resu...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00219338
更新日期:1992-03-01 00:00:00
abstract::Statistical tests for Hardy-Weinberg equilibrium have been an important tool for detecting genotyping errors in the past, and remain important in the quality control of next generation sequence data. In this paper, we analyze complete chromosomes of the 1000 genomes project by using exact test procedures for autosomal...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-017-1786-7
更新日期:2017-06-01 00:00:00
abstract::Some missense changes are compatible with normal protein function while others compromise essential aspects of protein maturation, specific activity, or stability. For those missense changes that alter function in the intact organism, how likely is it for the mutated protein to retain appreciable residual activity? By...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220543
更新日期:1992-05-01 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::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