Abstract:
:In order to evaluate the polymorphism of hemoglobin in a population of Equatorial Africa, we undertook a prospective study of 146 births at a rural maternity hospital close to Brazzaville (P.R. Congo). This showed among the mothers 31 (22%) carriers of the sickle cell trait (AS), six with delta mutation, and two with beta-thalassemia trait. Among the children, 27 (18.5%) had sickle cell trait and one had sickle cell homozygosity. The frequency of the HbF Sardinia trait was 7.5%. This and other studies suggested a dilution gradient from Europe to Africa. Hemoglobin Bart's could be visually detected in 23.3% of the new-born babies. We attempted to distinguish between those infants with a high level of Hb Bart's (Bart's ++ group: 13.7%) and a group with a detectable Hb Bart's level that in our experimental conditions is between 1 and 2% (Bart's + group: 9.6%). Mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were 88.6 +/- 5.7 fl and 29.0 +/- 2.1 pg in the Bart's ++ group; 94.5 +/- 10.9 fl and 30.6 +/- 4.1 pg in the Bart's + group; whereas they were 101.0 +/- 8.7 fl and 33.9 +/- 2.5 pg in the control group. Since iron deficiencies are very rare in new-borns and selecting according to published data on black people as homozygous alpha-thalassemia of the type I (-alpha/-alpha), individuals of the Bart's ++ group whose MCV was below 95 fl and MCV below 30 pg, the gene frequency is estimated to be 34% and that of heterozygotes (-alpha/alpha alpha) 45%. These high frequencies were confirmed in AS mothers: 45% showed a significant decrease of the S fraction.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Lallemant M,Galacteros F,Lallemant-Lecoeur S,Feingold J,Carnevale P,Boukila V,Mouchet J,Rosa Jdoi
10.1007/BF00278785subject
Has Abstractpub_date
1986-09-01 00:00:00pages
54-8issue
1eissn
0340-6717issn
1432-1203journal_volume
74pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::We report here that a defect of the interleukin common gamma subunit (gamma c) in X-linked severe combined immunodeficiency (XSCID) previously known as a missense mutation resulted instead in exon skipping in a Japanese XSCID patient. The phenotype of the patient was consistent with that of typical XSCID, and his Epst...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050907
更新日期:1999-01-01 00:00:00
abstract::Many studies of quantitative and disease traits in human genetics rely upon self-reported measures. Such measures are based on questionnaires or interviews and are often cheaper and more readily available than alternatives. However, the precision and potential bias cannot usually be assessed. Here we report a detailed...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0240-z
更新日期:2006-11-01 00:00:00
abstract::PTEN is one of the most frequently mutated tumor suppressor genes in human cancers. Mutations occur in either heritable or sporadic fashion. Sequencing of cDNA from patients and normal individuals often reveals splicing variants (SVs) of PTEN, some of which are non-mutation related. To investigate whether these SVs we...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0886-4
更新日期:2010-12-01 00:00:00
abstract::DNA sequence analysis of the 13 exons and intron/exon boundaries of the phenylalanine hydroxylase (PAH) gene has detected two base transitions, resulting in mis-sense mutations, in the genomic DNA of a Turkish patient (E1) with phenylketonuria (PKU). The Leu48----Ser amino acid substitution was associated with the mut...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00197153
更新日期:1991-08-01 00:00:00
abstract::This review is based on a thorough description of the structure and sequence organization of tandemly organized repetitive DNA sequence families in the human genome; it is aimed at revealing the locus-specific sequence organization of tandemly repetitive sequence structures as a highly conserved DNA sequence code. The...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF00196228
更新日期:1990-03-01 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::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::Yolk sac tumors are the most frequent kind of malignant pediatric germ cell tumor and may have a fundamentally different pathogenesis than adult germ cell tumors. Since few cytogenetic studies have been performed so far, in situ hybridization was applied to interphase cell nuclei of seven gonadal yolk sac tumors of ch...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210292
更新日期:1995-12-01 00:00:00
abstract::The DNA ancestry testing industry is more than a decade old, yet details about it remain a mystery: there remain no reliable, empirical data on the number, motivations, and attitudes of customers to date, the number of products available and their characteristics, or the industry customs and standard practices that ha...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1034-5
更新日期:2012-01-01 00:00:00
abstract::The alpha 207 Leu-->Pro mutation in spectrin has recently been identified as a cause of alpha I/50-46a hereditary elliptocytosis (HE) or pyropoikilocytosis among Black people. We have found this mutation in a Moroccan family in both the heterozygous and homozygous states. The mutated alpha-spectrin allele carried, in ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00202482
更新日期:1993-02-01 00:00:00
abstract::Aniridia is a severe eye disease characterized by iris hypoplasia; both sporadic cases and familial cases with an autosomal dominant inheritance exist. Mutations in the PAX6 gene have been shown to be the genetic cause of the disease. Some of the sporadic cases are caused by large chromosomal deletions, some of which ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100529
更新日期:2001-07-01 00:00:00
abstract::In this preliminary study, non-invasive infrared thermography has been used to visualize individual sweat pores and whole body skin temperature patterns in subjects with X-linked hypohidrotic ectodermal dysplasia (XHED) and normal controls. The findings in eight obligate heterozygotes and four affected males were comp...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00205164
更新日期:1990-11-01 00:00:00
abstract::Nucleolar fusion and nucleolus formation occurred simultaneously, immediately after mitosis, in cultured human lymphocytes. Evidence is presented that in late telophase and post-telophase, the individual nucleolar organising site includes two components, represented in post-telophase by the nucleolus and its attached ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291307
更新日期:1978-06-27 00:00:00
abstract::Multiple linkage regions have been reported in schizophrenia, and some appear to harbor susceptibility genes that are differentially expressed in postmortem brain tissue derived from unrelated individuals. We combined traditional genome-wide linkage analysis in a multiplex family with lymphocytic genome-wide expressio...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0172-7
更新日期:2006-06-01 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::We report a male child with autism found to have maternal uniparental disomy (UPD) of chromosome 1. The child met diagnostic criteria for the three symptom domains of autism: language impairment, deficient social communication and excessively rigid and repetitive behaviours. He also had a variety of features often ass...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1257-4
更新日期:2005-07-01 00:00:00
abstract::To initiate the complete characterization of mutations in the CFTR gene in Greek cystic fibrosis (CF) patients, we screened 184 patients for six relatively common mutations (delta F 508, G542X, G551D, 621 + 1 G-->T, N1303K, W1282X) using allele-specific hybridization and, in addition, analyzed exons 4, 5, 7, 8, 10, 11...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210426
更新日期:1995-09-01 00:00:00
abstract::The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291506
更新日期:1976-05-19 00:00:00
abstract::Cowden disease is an autosomal dominant disorder associated with an elevated risk of breast, thyroid and skin cancers, in which germline mutations of a tumour suppressor gene (PTEN) have been identified. PTEN has a dual-specificity tyrosine phosphatase domain thought to be essential for tumour suppression. Previous ge...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000317
更新日期:2000-07-01 00:00:00
abstract::One of the many potential uses of the HapMap project is its application to the investigation of complex disease aetiology among a wide range of populations. This study aims to assess the transferability of HapMap SNP data to the Spanish population in the context of cancer research. We have carried out a genotyping stu...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-005-0094-9
更新日期:2006-02-01 00:00:00
abstract::In certain segments of human DNA, the methylation of deoxycytidine residues has been found to be highly specific and interindividually conserved. Imprinted DNA sequences in diploid primary cells show allele-specific differences in DNA methylation, usually with the active chromosomal regions being unmethylated and the ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00202872
更新日期:1994-08-01 00:00:00
abstract::A novel complex mutation consisting of a small deletion/insertion (3958del5ins4) was found in the breast cancer-1 gene (BRCA-1) in three unrelated French breast and/or ovarian cancer families. These mutations occurred at the same nucleotide position of the 3' end of exon 11. The wild-type sequence, CTCAG, was deleted ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050826
更新日期:1998-09-01 00:00:00
abstract::We tested 190 chromosomes from Dutch cystic fibrosis (CF) patients and carriers for the presence or absence of the major CF mutation delta F508. This mutation was found on 77% of the Dutch CF chromosomes. We observed a significant difference in the distribution of the ages at diagnosis between homozygotes for delta F5...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02428281
更新日期:1990-09-01 00:00:00
abstract::The p53 gene product is part of a pathway regulating growth arrest at the G1 checkpoint of the cell cycle. Mutation of other components of this pathway, including the products of the ataxia telangiectasia (AT), GADD45, mdm2, and p21WAF1/CIP1 genes may have effects comparable to mutations in the p53 gene. The GADD45 ge...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02267084
更新日期:1996-04-01 00:00:00
abstract::Translocation t(11;22)(q23;q11) is the most common constitutional reciprocal translocation in man. Balanced carriers are phenotypically normal, except for decreased fertility, an increased spontaneous abortion rate and a possible predisposition to breast cancer in some families. Here, we report the high resolution map...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000287
更新日期:2000-05-01 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::Hereditary spastic paraplegia (HSP) is a genetically heterogenous group of inherited neurodegenerative disorders. Recently, an autosomal recessive form of HSP was mapped to 16q24.3, and subsequently the defective gene associated to HSP was identified and designated SPG7. The SPG7 gene product was predicted to encode a...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s004390050985
更新日期:1999-06-01 00:00:00
abstract::Field inversion gel electrophoresis (FIGE) of SfiI-digested chromosomal DNA was used to demonstrate a 50-kb deletion in one allele of the gene encoding the beta subunit of human hexosaminidase (HEXB at 5q13) of two apparently unrelated patients with Sandhoff disease. In conventional electrophoretic restriction analysi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00279006
更新日期:1989-02-01 00:00:00
abstract::Primary immunodeficiencies (PIDs) comprise a diverse group of over 400 genetic disorders that result in clinically apparent immune dysfunction. Although PIDs are classically considered as Mendelian disorders with complete penetrance, we now understand that absent or partial clinical disease is often noted in individua...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-020-02131-9
更新日期:2020-06-01 00:00:00
abstract::The aim of this study was to identify regions of the genome that harbor genes influencing inheritance of bicuspid aortic valve (BAV) and/or associated cardiovascular malformation (CVM). Aortic valve disease is an important clinical problem, which often results in valve replacement, the second most common cardiac surge...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0316-9
更新日期:2007-04-01 00:00:00