Abstract:
:Tay-Sachs disease (TSD) is an inherited neurodegenerative ganglioside storage disorder caused by deficiency of the hexosaminidase A enzyme. A deletion allele (FCD) at the HEXA locus has attained high frequency in the French Canadian population. The distribution of affected probands shows a likely center of diffusion for this mutation located in the Bas-St.-Laurent and Gaspésie regions of the province of Quebec. We have reconstructed the genealogies of 15 obligate carriers of the FCD allele to an average depth of 12 generations identifying 60 ancestors and 80 European founders common to all of them. The ancestral origins of the European founders show a significantly greater number of individuals born in the French provinces of Normandy and Perche than expected based on information regarding the origins of the 8,500 immigrants who settled the colony of New France during the French regime. We have identified common ancestors among the 10 who were born in Quebec who appear to be likely candidates for the origin of the FCD mutation. One such couple had 11 children, 5 of whom settled in regions of Quebec or New Brunswick that today have elevated heterozygote frequencies for the FCD. The five offspring are ancestors of all known carriers. By contrast, the absence of FCD alleles among TSD probands in France suggests that the mutation did not occur in a European founder.
journal_name
Hum Genetjournal_title
Human geneticsauthors
De Braekeleer M,Hechtman P,Andermann E,Kaplan Fdoi
10.1007/BF00207048keywords:
subject
Has Abstractpub_date
1992-04-01 00:00:00pages
83-7issue
1eissn
0340-6717issn
1432-1203journal_volume
89pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Esterase D was quantitatively measured in the red blood cells from three patients from three separate kindreds who had abnormalities of chromosome 13. The esterase D activity was proportional to the number of copies of the q14 region of chromosome 13 present. These findings confirm published data localizing the estera...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00327114
更新日期:1983-01-01 00:00:00
abstract::DNA samples from 60 unrelated Belgian hypercholesterolemic patients were subjected to heteroduplex analysis of exon 4 of the low density lipoprotein receptor (LDLR) gene. Aberrant mobility bands were detected in 2 patients and the underlying mutations were characterized by DNA sequence analysis. Both mutations, a 19-b...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00191796
更新日期:1995-10-01 00:00:00
abstract::The Wiskott-Aldrich syndrome protein (WASP) gene was found to be mutated in patients presenting with WAS and in patients showing X-linked thrombocytopenia. Mutation analysis in 19 families of German, Swiss and Turkish descent by single-strand conformation polymorphism and sequencing resulted in the detection of seven ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050162
更新日期:1996-07-01 00:00:00
abstract::In order to approach preimplantation testing for the fragile-X syndrome, we used genotyping of the polymorphic RS46(DXS548) locus closely linked to the FMR-1 gene, in single reproductive cells of females. The RS46(DXS548) amplification was adjusted to the single cell level by a two-round polymerase chain reaction (PCR...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210416
更新日期:1995-09-01 00:00:00
abstract::We have observed a T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene in members of two Czech families and one black family. Data from initial studies suggested that this change was the cause of a beta-thalassemia, but continued analyses have provided convinci...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00218918
更新日期:1994-01-01 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::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::Germline mutations of the adenomatous polyposis coli ( APC) gene cause familial adenomatous polyposis (FAP), an autosomal, dominantly inherited disease that predisposes patients to colorectal cancer. The APC gene is composed of 15 coding exons and encodes an open reading frame of 8.5 kb. The 3' 6.5 kb of the APCopen r...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0758-7
更新日期:2002-07-01 00:00:00
abstract::Confined chorionic mosaicism, detected commonly on chorionic villus sampling (CVS) and occasionally in cultured amniotic fluid cells, is described in five pregnancies that showed confined chorionic mosaicism for trisomies 12, 13, 14, 17 and a marker chromosome. Cytogenetic findings in these pregnancies support the con...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00272385
更新日期:1987-10-01 00:00:00
abstract::A 3-year-old child of Sicilian origin was found to have a severe form of Cooley's anemia. Investigations were extended to other members of her family. In three, a rare beta-chain structural Hb variant, Hb G San José [beta 7 (A4) Glu to Gly], was observed: in the father of the porposita heterozygosity for the abnormal ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00271579
更新日期:1979-11-01 00:00:00
abstract::Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 kb. Seven children with...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220080
更新日期:1992-11-01 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::Otosclerosis is a common form of hearing loss which typically presents in young adults. The disease has a familial, monogenic form and a non-familial form with a more complex aetiology. A previous genome wide association study identified evidence that variants within RELN are associated with the condition. Other genes...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1889-9
更新日期:2018-05-01 00:00:00
abstract::Whole genome sequencing (WGS) was performed to identify the variants responsible for inherited retinal degeneration (IRD) in a Caucasian family. Segregation analysis of selected rare variants with pathogenic potential identified a set of compound heterozygous changes p.Arg266*:c.796C>T and p.Ala568Thr:c.1702G>A in the...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1897-9
更新日期:2018-07-01 00:00:00
abstract::HLA markers (A, B, C, DR loci) were determined for the members of 52 unrelated families with at least one child suffering from congenital adrenal hyperplasia due to 21 hydroxylase deficiency, permitting genotyping. The gene frequencies of the 52 index cases were compared with those obtained from the patients' normal h...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00287061
更新日期:1980-01-01 00:00:00
abstract::Two reciprocal balanced translocations involving chromosomes 2, 9, 12, and 18 were found in the karyotype of a woman with a child showing several congenital malformations at birth. Prenatal cytogenetic diagnosis, performed when a second pregnancy occurred, showed a normal chromosome constitution in the foetus. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291917
更新日期:1979-01-25 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::Mutation accumulation has been proposed as a cause of senescence. During this process, age-related genetic and epigenetic mutations steadily accumulate. Cascading deleterious effects of mutations might initiate a steady "accumulation of deficits" in cells, despite the existence of repair mechanisms, leading to cellula...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-02067-9
更新日期:2020-03-01 00:00:00
abstract::The imprinted domain on human chromosome 15 consists of two oppositely imprinted gene clusters, which are under the control of an imprinting center (IC). The paternally expressed SNURF-SNRPN gene hosts several snoRNA genes and overlaps the UBE3A gene, which is encoded on the opposite strand, expressed - at least in br...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-004-1104-z
更新日期:2004-05-01 00:00:00
abstract::We compared the fragile X (fraX) expression in T and B lymphocytes from four hemizygous males with fraX. Blood cultures were stimulated with a T cell mitogen (phytohemagglutinin:PHA) and with a B cell mitogen (pokeweed mitogen:PWM). A significant decrease in fraX expression was observed in cultures stimulated with PWM...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273003
更新日期:1984-01-01 00:00:00
abstract::We describe a genetic polymorphism of cytosol polypeptide with mol. wt. of 38,000 detected in phytohemagglutinin (PHA)-stimulated peripheral blood lymphocytes by two-dimensional gel electrophoresis. Three different electrophoretic phenotypes (type 1-1, 2-1, 2-2) of the polypeptide have been identified in a Japanese po...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00295371
更新日期:1985-01-01 00:00:00
abstract::Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY females with ovarian gonadal differentiation and typical clinical features of campomelic dysplasia could be tested for H-Y antigen and were found to ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00271160
更新日期:1981-01-01 00:00:00
abstract::A myeloblastin/proteinase-3 (MBN/PR-3) cDNA probe detects two bi-allelic (BglII, PvuII) DNA polymorphisms. These restriction fragment length polymorphisms provide new genetic markers on chromosome 19. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00216465
更新日期:1993-11-01 00:00:00
abstract::A new mutant alpha-1-antichymotrypsin (variant ACT) was found by polymerase chain reaction single strand conformation polymorphism and direct sequencing. In this variant ACT, two bases (AA) were deleted from codon 391. This resulted in a different amino acid sequence downstream of the deletion point, elongating the pe...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220480
更新日期:1992-12-01 00:00:00
abstract::Most genetic studies recruit high risk families and the discoveries are based on non-random selected groups. We must consider the consequences of this ascertainment process in order to apply the results of genetic research to the general population. In previous reports, we developed a latent variable model to assess t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0147-8
更新日期:2006-05-01 00:00:00
abstract::cDNA probe of the casein kinase 2 alpha subunit gene detects a biallelic PstI polymorphism. This restriction fragment length polymorphism is the first known genetic marker of this gene. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201680
更新日期:1994-04-01 00:00:00
abstract::About 20% of leukemic bone marrow cells from each of two patients with B-cell lymphoid leukemias showed apparent translocations which appeared to be the result of telomeric association. In one patient, whole chromosomes were associated telomere to telomere in pairs; in the other patient, telomeres of whole chromosomes...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291396
更新日期:1984-01-01 00:00:00
abstract::A cystinuria disease gene (rBAT) has recently been identified, but evidence strongly suggests that only Type-I cystinuria is due to mutations in this gene. Sixteen point mutations and a large deletion causing the disease have so far been described in the rBAT gene sequence. To identify new mutated alleles, genomic DNA...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050237
更新日期:1996-10-01 00:00:00
abstract::Chromosomal studies of the bone marrow and cultured peripheral blood cells in a 42-year-old female with the clinical and laboratory features typical for CML revealed a previously undescribed variant translocation involving chromosomes 12 and 22. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00287017
更新日期:1977-11-10 00:00:00
abstract::Angelman syndrome (AS) is a rare neurodevelopmental disorder. Recently, several mutations have been found in the E6-AP ubiquitin protein ligase gene (UBE3A) in a group of patients who are nondeleted and do not have uniparental disomy or imprinting defects. Most of the reported mutations cluster within exons 9 or 16 of...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050727
更新日期:1998-04-01 00:00:00