Abstract:
:Three fragile sites 2q13, 12q13, and 17p12 were found in one family. In the index case, who was first investigated in 1969 for low birth weight and bilateral inguinal hernia, three tissues were examined, blood, marrow, and skin. Three of the family have been reinvestigated after 17 years. Cultures for sister chromatid exchange (SCE) and the effects of aphidicolin, fluorodeoxyuridine (FUdR), bromodeoxyuridine (BrdU), and methotrexate on the frequency of the fragilities were studied. The mother of the index case who is an obligate carrier for the fragile 2q13 does not express it in folate/thymidine deficient medium. Further studies on her using a lymphoblastoid cell line, showed that there was a reduced level of fragility of 12q13 and 17p12 in B-lymphocytes compared to T-lymphocytes. Excess thymidine and FUdR when added to the lymphoblastoid cell line did not induce the 2q13. These studies also confirm the induction of a range of common fragile sites by treatment with aphidicolin, showing in addition homozygosity for at least 3p14, 6q26, 16q23, and Xp22. There were no detectable increases in the SCE rate between individuals with fragile sites and the five controls tested. There was no history of cancer or phenotypic abnormalities in the family.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Romain DR,Columbano-Green LM,Smythe RH,Parfitt RG,Gebbie OB,Chapman CJdoi
10.1007/BF00291608subject
Has Abstractpub_date
1986-06-01 00:00:00pages
164-70issue
2eissn
0340-6717issn
1432-1203journal_volume
73pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::ISLR2 (immunoglobulin superfamily containing leucine-rich repeat 2), encodes a protein involved in axon guidance in brain development (hence the other name leucine-rich repeat domain- and immunoglobulin domain-containing axon extension proteins; LINX). A recently described mouse knockout displays hydrocephalus. Howeve...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1963-3
更新日期:2019-01-01 00:00:00
abstract::X-chromosome inactivation and the size of the CGG repeat number are assumed to play a role in the clinical, physical, and behavioral phenotype of female carriers of a mutated FMR1 allele. In view of the tight relationship between replication timing and the expression of a given DNA sequence, we have examined the repli...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004399900081
更新日期:1999-07-01 00:00:00
abstract::A male newborn with a ring 10 chromosome is described. The distal part of the long arm of chromosome 10, deleted during ring formation (10q25), is translocated to the short arm of chromosome 19. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293602
更新日期:1978-08-31 00:00:00
abstract::The human gene locus c-MEL was identified following transfection of genomic DNA from the human melanoma cell line NK14; it has previously been assigned to chromosome 19 (p13.2-q13.2) by analysis of somatic cell hybrids. We have further refined the position of this gene to the proximal region of 19p (cen-p13.2), using ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283697
更新日期:1989-03-01 00:00:00
abstract::Transient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine growth retardation, while Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome. Both TNDM and BWS may be caused by aberrant loss of methylation (LOM) at imprinted loci on chromosomes 6q24 and 11p15.5 respective...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-0127-4
更新日期:2006-03-01 00:00:00
abstract::We have studied the effects of cocultivation on the frequency of mitomycin C (MMC)-induced chromosomal aberrations. This was carried out by cocultivating Fanconi anemia (FA) cells from the genetic complementation groups A and B with both normal mouse lymphoma L5178Y cells and the derived "FA-like" mutant cells, MCN-15...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210801
更新日期:1990-05-01 00:00:00
abstract::Sample of 981 and 998 South African Negroes belonging to seven different ethnic groups were screened for G-6-PD and 6-PGD phenotypes, respectively. The results are discussed in terms of the interethnic variability and the possible adaptive values of these genetic polymorphisms. Particular attention is paid to the geog...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278978
更新日期:1980-01-01 00:00:00
abstract::Seven patients are described who have some or all of the symptoms of Prader-Willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The chromosome abnormal...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00292373
更新日期:1983-01-01 00:00:00
abstract::Two major obstetric diseases, preeclampsia (PE), a pregnancy-induced endothelial dysfunction leading to hypertension and proteinuria, and intra-uterine growth-restriction (IUGR), a failure of the fetus to acquire its normal growth, are generally triggered by placental dysfunction. Many studies have evaluated gene expr...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02248-x
更新日期:2021-01-12 00:00:00
abstract::GTF2IRD1 is one of the three members of the GTF2I gene family, clustered on chromosome 7 within a 1.8 Mb region that is prone to duplications and deletions in humans. Hemizygous deletions cause Williams-Beuren syndrome (WBS) and duplications cause WBS duplication syndrome. These copy number variations disturb a variet...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1591-0
更新日期:2015-10-01 00:00:00
abstract::Hybrids were performed between cell lines derived from four patients with Fanconi's anemia in which different biochemical lesions have been postulated. Complementation studies in these hybrids based on the rate of mitomycin C-induced chromosomal damage supported the concept of allelic mutations. It was therefore concl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00289479
更新日期:1983-01-01 00:00:00
abstract::Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1880-5
更新日期:2018-05-01 00:00:00
abstract::The presence of a de novo supernumerary marker chromosome (SMC) poses problems in genetic counseling. The consequences of the additional chromosomal material may range from harmless to detrimental. As the composition of a SMC cannot be deciphered by traditional banding analysis, sophisticated methods are needed for th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100571
更新日期:2001-08-01 00:00:00
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 ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278785
更新日期:1986-09-01 00:00:00
abstract::We identified two additional mutations in the ferrochelatase gene in two Swiss patients with erythropoietic protoporphyria (EPP). Ferrochelatase cDNA from patients was amplified by the polymerase chain reaction (PCR) and subjected to mutation analysis by sequencing PCR products either directly or after subcloning. The...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201578
更新日期:1994-06-01 00:00:00
abstract::To improve the analysis of parentage testing with the additional technique of DNA polymorphisms, the usefulness of probe YNH24 was studied. The allele frequency distribution of restriction fragments detected by probe YNH24 on TaqI-digested genomic DNA from 100 unrelated individuals was determined. For this purpose, th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00196240
更新日期:1990-03-01 00:00:00
abstract::Despite the recent discover of genome-editing methods, today we can say these approaches have firmly entered our life. Two approaches-knocking out malfunctioning gene allele or correcting the mutation with precise knock-in-can be used in hereditary monogenic diseases treatment. The latter approach is relatively ineffe...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-018-1953-5
更新日期:2019-01-01 00:00:00
abstract::Genetic studies in Turkish, Native American, European American, and African American (AA) families have linked chromosome 18q21.1-23 to susceptibility for diabetes-associated nephropathy. In this study, we have carried out fine linkage mapping in the 18q region previously linked to diabetic nephropathy in AAs by genot...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0732-8
更新日期:2009-12-01 00:00:00
abstract::A total of 15,387 individuals living in Hiroshima and Nagasaki, of whom 10,864 are unrelated, were examined for erythrocyte triosephosphate isomerase (TPI) by starch gel electrophoresis using TEMM buffer, pH 7.4. Four kinds of new variants, one having a cathodal migration and three having anodal migrations, were encou...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00279312
更新日期:1984-01-01 00:00:00
abstract::To investigate molecular and clinical aspects of conotruncal anomaly face (CAF), we studied the correlation between deletion size and phenotype and the mode of inheritance in 183 conotruncal anomaly face syndrome (CAFS) patients. Hemizygosity for a region of 22ql1.2 was found in 180 (98%) of the patients with CAFS by ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050786
更新日期:1998-07-01 00:00:00
abstract::Recombinant DNA methodology has greatly increased our knowledge of the molecular pathology of the human genome at the same time as providing the means of diagnosing inherited disease at the DNA level. Direct detection and analysis of a wide range of genetic lesions are now possible using cloned gene or oligonucleotide...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF00244464
更新日期:1993-10-01 00:00:00
abstract::The genetic heterogeneity of severe von Willebrand disease (vWd) type III was estimated by analysing extended haplotypes of eleven intragenic restriction fragment length polymorphisms and one variable number of tandem repeat polymorphism in 32 patients from 28 families from Germany or of German origin. All patients we...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00206958
更新日期:1994-12-01 00:00:00
abstract::Based on four reported cases including the present case, 16p trisomic infants have remarkably similar features. These are severe developmental delay, psychomotor retardation, typical facies, and anomalies of extremities. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293904
更新日期:1989-01-01 00:00:00
abstract::A new G6PD variant has been detected in a Cuban male and there is no evidence of associated hematological abnormalities. The main characteristics of this variant, moderate deficiency, slow electrophoretic mobility, increased utilization of the substrate analogues, and a different chromatographic behavior, indicate tha...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00329141
更新日期:1980-01-01 00:00:00
abstract::The CDY family of genes is of special interest because some of them are included in chromosome-Y microdeletions detected among infertile men and are apparently involved in the spermiogenetic process. In this study, we employed the reverse transcriptase/polymerase chain reaction technique to test the RNA expression of ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-0990-9
更新日期:2003-11-01 00:00:00
abstract::Hereditary nonpolyposis colorectal cancer (HN-PCC) is one of man's commonest hereditary diseases. Several studies have identified four responsible genes that are involved in a process known as DNA mismatch repair; hMSH2 is the most important of these four genes. In addition to mutational analysis of these genes, inves...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00218844
更新日期:1996-01-01 00:00:00
abstract::HPRT Ann Arbor is a variant of hypoxanthine (guanine) phosphoribosyl-transferase (HPRT: EC 2.4.2.8), which was identified in wo brothers with hyperuricemia and nephrolithiasis. In previous studies, this mutant enzyme was characterized by an increased Km for both substrates, a normal Vmax, a decreased intracellular con...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291707
更新日期:1988-05-01 00:00:00
abstract::Buerger disease (BD) is an occulusive vascular disease of unknown etiology. Although cigarette smoking is a well-known risk factor of BD, genetic factors may also play a role in the etiology. Because chronic bacterial infection such as oral periodontitis is suggested to be involved in the pathogenesis of BD, gene poly...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0408-1
更新日期:2007-11-01 00:00:00
abstract::Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in white populations. Significant regional differences in CF mutations among affected individuals have been reported. We have studied the geographic distribution of the relative frequencies of the three most common Dutch CF mutations, deltaF5...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050745
更新日期:1998-05-01 00:00:00
abstract::We have determined the frequency of deletion delta F508 and mutation G542X, a nonsense mutation in exon 11 of the cystic fibrosis (CF) gene, in a sample of 400 Spanish CF families. Mutation G542X represents 8% of the total number of CF mutations in Spain, making it the second most common mutation after the delta F508 ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00230225
更新日期:1993-03-01 00:00:00