Abstract:
:Laird et al. (1987) hypothesized that there are at least four cis-acting alleles or 'chromosome states' at Xq27 that increasingly delay replication at this chromosomal area resulting in its increasing fragility in vitro. When on the inactive X chromosome, the proposed third ('mutated') allele can permanently block reactivation of its cis Xq27 area as the chromosome passes through female meiosis. Males and some females who inherit such an 'imprinted' fragile X chromosome (the fourth proposed allele) will be clinically affected due to impaired transcription of genes in the 'imprinted' Xq27 area. To test this hypothesis, late replication reverse banding patterns at Xq27 were evaluated in cultured lymphoblastoid cell lines from 25 subjects. Our data suggest that DNA replication of the presumed 'imprinted' Xq27 region in affected fragile X patients is indeed later relative to Xq27 on the active X chromosome in other subjects. These results support in part Laird's hypothesis of chromosomal imprinting in fragile X syndrome.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Yu WD,Wenger SL,Steele MWdoi
10.1007/BF00193580subject
Has Abstractpub_date
1990-10-01 00:00:00pages
590-4issue
6eissn
0340-6717issn
1432-1203journal_volume
85pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::In an attempt to investigate beta-globin gene polymorphism in the Saudi population, DNA samples were analysed using restriction endonucleases, Mst II and Hpa I. Both beta A and beta S genes showed extensive polymorphism and were found to be linked to 13.0 kb, 7.6 kb, 7.0 kb, and 5.6 kb Hpa I fragments. Three DNA sampl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282555
更新日期:1986-11-01 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::Wegener's granulomatosis (WG) is a systemic disease with complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis and the presence of antineutrophil cytoplasmatic autoantibodies (C-ANCAs) in sera of patients. Here...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-004-1092-z
更新日期:2004-04-01 00:00:00
abstract::Thioridazine (Mellaril), a psychotropic drug belonging to the phenothiazine group of drugs, was evaluated for its in vivo clastogenic effect on human chromosomes in lymphocyte cultures. Lymphocyte cultures were set up with peripheral blood samples of psychiatric patients (diagnosis: schizophrenia, mania, manic depress...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00333518
更新日期:1982-01-01 00:00:00
abstract::A woman with a balanced translocation t(3;11)(p27;q23) has had three abnormal children. The first child died in infancy, and of the two survivors who show segregation of the derivative maternal translocated chromosomes, one exhibits partial trisomy 11q and the other partial monosomy 11q. The two cases are compared wit...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284603
更新日期:1979-11-01 00:00:00
abstract::High resolution cytogenetics, microsatellite marker analyses, and fluorescence in situ hybridization were used to define Xq deletions encompassing the fragile X gene, FMR1, detected in individuals from two unrelated families. In Family 1, a 19-year-old male had facial features consistent with fragile X syndrome; howev...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050501
更新日期:1997-08-01 00:00:00
abstract::Swiss albino male mice were administered two doses (1 and 2 HA units) of influenza A2 Hong Kong/68 virus IP. The incidence of chromosomal anomalies in spermatocytes was analysed at various times post infection and was found to be significantly higher than in controls, indicating that the influenza virus had induced th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286960
更新日期:1978-12-18 00:00:00
abstract::A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a balanced heterozygote...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00447289
更新日期:1976-07-07 00:00:00
abstract::A reciprocal translocation involving chromosomes Nos. 3 and 22 has been found in a patient with seemingly Ph-negative chronic myelogenous leukemia (CML). G-band analysis revealed, that deletion in No. 22 occurred at the same point, as in the typical cases of the disease. It was concluded, that breakage in No. 22 at a ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291511
更新日期:1976-05-19 00:00:00
abstract::Steroid 21-hydroxylase deficiency is the major cause of congenital adrenal hyperplasia. Genotyping for deletions and nine point mutations in the CYP21 gene has been performed in 38 Spanish patients and their relatives by Southern blot analysis and allele-specific oligonucleotide hybridization. Three clinical variants ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00207379
更新日期:1995-08-01 00:00:00
abstract::Two antitubercular drugs, viz., isoniazid (INH) and para-aminosalicylic acid (PAS), in combination, were evaluated for their in vivo clastogenic effects of human lymphocyte chromosomes. Lymphocyte cultures from tuberculosis patients taking a therapeutic dose of INH and PAS for a period of not less than 3 months and fr...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00274696
更新日期:1981-01-01 00:00:00
abstract::We identified two informative polymorphisms in the transcribed 3' untranslated region of the tumor necrosis factor receptor 2 (TNFR2) gene using the polymerase chain reaction (PCR) with the single-strand conformation polymorphism (SSCP) technique. These polymorphisms demonstrated Mendelian inheritance and were useful ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201604
更新日期:1994-10-01 00:00:00
abstract::Segregation analysis was performed in three families affected in X-linked agammaglobulinemia (XLA) with five polymorphic DNA probes linked to the disease locus. In agreement with previous studies, no recombination was observed with either pXG12 (DXS94) or S21 (DXS17). Segregation analysis was also performed with a mar...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210664
更新日期:1989-12-01 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::Smallpox is a deadly and debilitating disease that killed hundreds of millions of people in the past century alone. The use of Vaccinia virus-based smallpox vaccines led to the eradication of smallpox. These vaccines are remarkably effective, inducing the characteristic pustule or "take" at the vaccine site in >97 % o...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-012-1179-x
更新日期:2012-09-01 00:00:00
abstract::Highly atopic individuals, with marked allergy, have extremely elevated total plasma IgE levels. To determine if atopy could be associated with structural alterations involving the IGHE gene of the immunoglobulin heavy chain constant region, the genomic DNA from five atopic individuals was examined. We describe here t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00193590
更新日期:1990-10-01 00:00:00
abstract::A new biallelic polymorphism for FokI restriction enzyme due to C----T transition in the fourth intron of human DRD2 is described. It must be a usefull marker of this candidate gene for several mental disorders. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220561
更新日期:1992-05-01 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::Magnesium-dependent hypocalcaemia (HSH), a rare inherited disease, is caused by selective disorders of magnesium absorption. Both X-linked and autosomal recessive modes of inheritance have been reported for HSH; this suggests a genetically heterogeneous condition. A balanced de novo t(X;9)(p22;q12) translocation has b...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00202829
更新日期:1994-05-01 00:00:00
abstract::Developmental and epileptic encephalopathies (DEEs) are genetically heterogenous conditions, often characterized by early onset, EEG interictal epileptiform abnormalities, polymorphous and drug-resistant seizures, and neurodevelopmental impairments. In this study, we investigated the genetic defects in two siblings wh...
journal_title:Human genetics
pub_type: 临床试验,杂志文章
doi:10.1007/s00439-019-01972-3
更新日期:2019-02-01 00:00:00
abstract::Adenine phosphoribosyltransferase (APRT) deficiency leading to 2,8-dihydroxyadenine (DHA) urolithiasis has been considered a rare cause of urolithiasis and renal insufficiency. We have examined samples from 19 Japanese families with DHA lithiasis. In 79% of the families, patients only partially lacked hemolysate APRT ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00591080
更新日期:1987-02-01 00:00:00
abstract::Linkage relationships to unassigned and provisionally assigned genetic markers were examined from 53 families segregating for various fragile sites. Fragile sites were at Xq27, 2q13, 6p23, 9p21, 9p32, 10q23, 10q25, 11q13, 11q23, 12q13 and 16p12. No new assignments were made but extensive exclusion data are presented f...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285035
更新日期:1983-01-01 00:00:00
abstract::In this paper observations are summarized and speculations discussed, and it is suggested that some loci on the distal short arm of the X chromosome (Xp) are not randomly inactivated in the female, because they are within the proximal part of the pairing segment between Xp and Yp. This peculiarity of gene expression m...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00303003
更新日期:1982-01-01 00:00:00
abstract::C'3 phenotype and gene frequencies observed in two Italian samples are reported. The allele frequencies resemble those reported for other Caucasian populations. Five different rare variants are described. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00321026
更新日期:1979-04-05 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::Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease characterized by fibro-fatty replacement of right ventricular free wall myocardium and life-threatening ventricular arrhythmias. A missense mutation, c.1073C>T (p.S358L) in the transmembrane protein 43 (TMEM43) gene, has been genetically id...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1323-2
更新日期:2013-11-01 00:00:00
abstract::Starting from a group of 265 Italian patients affected with Duchenne or Becker muscular dystrophy a screening for duplications in the dystrophin gene was performed on 112 cases in which no deletions had previously been detected. The 21 intragenic duplications detected account for 7.9% of the total. Among these, one du...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02272848
更新日期:1994-07-01 00:00:00
abstract::Family-based candidate gene and genome-wide association studies are a logical progression from linkage studies for the identification of gene and polymorphisms underlying complex traits. An efficient way to analyse phenotypic and genotypic data is to model linkage and association simultaneously. An important result fr...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0278-y
更新日期:2007-03-01 00:00:00
abstract::The size of the heterochromatic regions of chromosomes 1 and 16 was measured in a Test group of women with histories of recurrent spontaneous abortion and a Control group of fertile women. Measurements were made on Giemsa banded preparations and the euchromatic regions of 1q and 16q were used to correct for between-ce...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285399
更新日期:1983-01-01 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