Abstract:
:Alzheimer disease (AD) is a devastating neurodegenerative disease leading to global dementia. The familial form (FAD) has been linked to markers on chromosome 21 in some families, most tightly to the loci D21S16 and D21S13 located close to the centromere of the long arm. In other families the FAD mutation has been excluded from the more telomeric D21S1/S11 region, but not from the centromeric region of chromosome 21. We identified two new restriction fragment length polymorphisms (RFLPs) for the locus D21S13 and have used these RFLPs for the analysis of one of the largest known early-onset FAD pedigrees. We calculated pairwise and multipoint lod scores for the loci D21S13, D21S110, and D21S11. Linkage to this region of chromosome 21 was excluded with maximum negative lod scores of -6.4 at D21S13 and D21S110. Thus, it is unlikely that the FAD mutation in this family is located in the region that has shown linkage in other FAD pedigrees. This result provides evidence for genetic heterogeneity of early-onset FAD or a location of FAD centromeric to D21S13.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Pulst SM,Fain P,Cohn V,Nee LE,Polinsky RJ,Korenberg JRdoi
10.1007/BF00204173subject
Has Abstractpub_date
1991-06-01 00:00:00pages
159-61issue
2eissn
0340-6717issn
1432-1203journal_volume
87pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Chromosomal region 17q12-q21 is one of the best-replicated genome-wide association study (GWAS) hits and associated with childhood-onset asthma. However, the mechanism by which the genetic association is restricted to childhood-onset disease is unclear. During childhood, more boys than girls develop asthma. Therefore,...
journal_title:Human genetics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00439-013-1298-z
更新日期:2013-07-01 00:00:00
abstract::Eleven families with X-linked dominant hypophosphataemic rickets (HPDR) have been typed for a series of X chromosome markers. Linkage with probe 99.6 (DXS41) was demonstrated with a peak lod score of 4.82 at 10% recombination. Multilocus linkage analysis showed that HPDR maps distal to 99.6; this probe has previously ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00401242
更新日期:1986-07-01 00:00:00
abstract::The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives. Isolated groups still exist in mountainous areas such as Belmonte in the Beira-Baixa province of Portugal. We report here the genetic ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000350
更新日期:2000-09-01 00:00:00
abstract::There have been a number of genome-wide linkage studies for adult height in recent years. These studies have yielded few well-replicated loci, and none have been further confirmed by the identification of associated gene variants. The inconsistent results may be attributable to the fact that few studies have combined ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0305-z
更新日期:2007-04-01 00:00:00
abstract::The human St2 locus has been assigned to chromosome 2, using a human ST2 cDNA clone, by a human/rodent somatic cel hybrid mapping panel. The St2 locus has also been mapped to chromosome 2q11.2, using a human ST2 genomic DNA clone, by in situ hybridization. The locus is very tightly linked to the Il-1r1 locus. Together...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02281860
更新日期:1996-05-01 00:00:00
abstract::A reliable technique for staining human chromosomal nucleolar organizers (NOR's) with silver solutions is described. The NOR's can be selectively stained dark brown by silver solutions leaving the chromosome arms unstained and available for counterstaining with orcein or Giemsa dyes. Unequivocal identification of chro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278889
更新日期:1976-10-28 00:00:00
abstract::Postprandial triglyceridemia is an emerging risk factor for cardiovascular disease. However, most of the genes that influence postprandial triglyceridemia are not known. We evaluated whether a common nonsynonymous SNP rs1260326/P446L in the glucokinase regulatory protein (GCKR) gene influenced variation in the postpra...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0700-3
更新日期:2009-10-01 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::Ectodermal dysplasia syndromes are genetically heterogeneous group of disorders involving one or more of the classical ectodermal appendages (hair, nail, teeth, sweat glands) in association with anomalies of other organs or systems. In the present study a novel form of ectodermal dysplasia syndrome, ectodermal dysplas...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0640-y
更新日期:2009-05-01 00:00:00
abstract::Spi1 is an oncogene specifically activated in acute murine erythroleukemias induced by the Friend spleen focus forming virus (SFFV). Three probes were used for the chromosomal assignment of the human SPI1 oncogene: cDb1 and RaB2 correspond respectively to murine Spi1 and human SPI1 cDNA probes; C45a6B probe is a murin...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210807
更新日期:1990-05-01 00:00:00
abstract::DNA patterns from a pseudoautosomal variable number tandem repeat-like minisatellite (locus DXYS20) were compared in two samples: a Caucasian and a Black sample. We defined 3 types of DNA patterns named A, B and C, and found that these patterns have different frequencies in the Caucasian and Black groups. A set of all...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00219347
更新日期:1992-03-01 00:00:00
abstract::In situ hybridization using a probe specific for the human ZFX and ZFY loci assigns the ZFX gene to Xp21.3 and the ZFY gene to Yp11.32. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00288279
更新日期:1989-04-01 00:00:00
abstract::Hand-foot-genital syndrome (HFGS) is a dominantly inherited congenital malformation affecting the distal limbs and genitourinary tract. Here, we describe the phenotype and its molecular basis in a family that presented with HFGS. Genetic analysis revealed that the condition is caused by an 18-bp in-frame duplication w...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-002-0712-8
更新日期:2002-05-01 00:00:00
abstract::A meta-analysis assessed whether the Ala45Thr polymorphism of the neurogenic differentiation 1 (NEUROD1) gene is associated with increased risk of diabetes mellitus type 1 (T1D) or type 2 (T2D). Fourteen case-control studies were analyzed, including genotype data on 3,057 patients with diabetes (T1D n=1,213, T2D n=1,8...
journal_title:Human genetics
pub_type: 杂志文章,meta分析
doi:10.1007/s00439-004-1224-5
更新日期:2005-02-01 00:00:00
abstract::To elucidate the mechanism of lipid metabolism in the genesis of essential hypertension (EH), we linked blood pressure (BP) phenotypes with the lipoprotein lipase (LPL) gene. Variance component and sib-pair linkage models were used to test the relationship of the polymorphisms in the LPL gene region and EH in 148 Chin...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-004-1108-8
更新日期:2004-06-01 00:00:00
abstract::Densitometric C-band measurements in chromosomes 1, 9, and 16 of 394 Indians and 40 Caucasoids living in Brazil are reported. No significant intratribal variability in the average length of these regions was observed, and the intertribal variation showed no consistent patterns. But the Caucasoids always presented lowe...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00271168
更新日期:1981-01-01 00:00:00
abstract::The phenotype AK 3.3 in the isoenzyme system of human adenylate kinase has been found in two members of the Wayampi population of French Guiana. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278843
更新日期:1978-09-19 00:00:00
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::Catalase is an important antioxidant enzyme that detoxifies H2O2 into oxygen and water and thus limits the deleterious effects of reactive oxygen species (ROS). Because chronic exposure to excess ROS may contribute to vascular damage, we investigated whether genetic variation in catalase was associated with susceptibi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100553
更新日期:2001-07-01 00:00:00
abstract::Molecular characterization of a ring chromosome 14 was carried out in a patient with the 46,XX,r(14) karyotype. The breakpoints shown by chromosome banding were within bands p11 and q32. Using molecular probes for the immunoglobulin heavy chain (IGH), D14S1 and PI loci located at 14q32, we showed that the IGH and D14S...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291158
更新日期:1989-06-01 00:00:00
abstract::In this study, we performed an in-depth analysis of the neurologic and ophthalmologic phenotype in a patient with Pitt-Hopkins syndrome (PTHS), a disorder characterized by severe mental and motor retardation, carrying a uniallelic TCF4 deletion, and studied a zebrafish model. The PTHS-patient was characterized by high...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-0999-4
更新日期:2011-11-01 00:00:00
abstract::A locus (CPX) responsible for X-linked cleft palate and ankyloglossia was previously mapped to the proximal long arm of the X chromosome through DNA marker linkage studies in two large kindred: an Icelandic family and a British Columbia (B.C.) Native family. In this study, additional linkage analyses have been perform...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00202859
更新日期:1994-08-01 00:00:00
abstract::Two cases of a pericentric inversion of chromosome 2 were found amongst 3619 blood specimens referred for karyotypic analysis. An additional three cases were identified within 1820 pregnancies presenting for genetic amniocentesis because of late maternal age. The implications for management in these cases are discusse...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293042
更新日期:1985-01-01 00:00:00
abstract::Five sequence polymorphisms at the phenylalanine hydroxylase (PAH) gene locus were observed to be in tight association with specific alleles of this locus. Since these polymorphisms can be detected using polymerase chain reaction (PCR) methodology, application of a combination of these polymorphisms reduces the effort...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00208290
更新日期:1994-09-01 00:00:00
abstract::The nucleolus organizer regions (NORs) of variant D- and G-group chromosomes characterized by enlargements of the short arms including secondary constrictions and satellites, were examined using the silver-staining method. Of a total of nine variants examined, four were found to have double Ag-stained NORs in the enla...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291776
更新日期:1980-01-01 00:00:00
abstract::Disease-causing mutations have been identified in various entities of autosomal dominant ataxia and in Friedreich's ataxia. However, no molecular pathogenic factor is known to cause idiopathic cerebellar ataxias. We investigated the CAG/CTG trinucleotide repeats causing spinocerebellar ataxia types 1, 2, 3, 6, 7, 8 an...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000346
更新日期:2000-08-01 00:00:00
abstract::Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1638-x
更新日期:2016-04-01 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::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::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