Abstract:
:A cosmid library was constructed from genomic DNA of a human-mouse somatic cell hybrid containing an 11q-16q translocation chromosome as the only human DNA. Cosmids with human inserts were prehybridized with total human DNA and were screened to find probes that revealed highly polymorphic loci. From one such cosmid, CF33-79, a single-copy subclone was isolated which revealed an insertion/deletion polymorphism with at least 11 alleles and a PIC of 0.77. Using a somatic cell hybrid mapping panel, the subclone was mapped to chromosome 16. By in situ hybridization with the entire cosmid used as a probe, chromosomal localization was shown at 16q22----24.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Bufton L,Mohandas TK,Magenis RE,Sheehy R,Bestwick RK,Litt Mdoi
10.1007/BF00280499subject
Has Abstractpub_date
1986-12-01 00:00:00pages
425-31issue
4eissn
0340-6717issn
1432-1203journal_volume
74pub_type
杂志文章相关文献
HUMAN GENETICS文献大全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::The consanguinity of parents (born in France) of individuals who have a recessive disease has been studied. The frequency of first cousin marriages is less than 0.2% in the general French population. Among the parents of affected individuals the following frequencies of first cousin matings were observed: cystic fibro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00527398
更新日期:1977-09-22 00:00:00
abstract::Gene frequency data of ten protein and enzyme loci in seven populations of India were collected from the literature. The gene differentiation among seven populations relative to total population was only 0.6%, indicating that the genic variation between populations was small compared to that within them. Using 29 comm...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00280836
更新日期:1977-12-29 00:00:00
abstract::A simple and rapid technique is described whereby the nucleolus organizer regions (NORs) of human chromosomes can be differentially stained with silver. This staining is followed by trypsin-Giemsa banding on the same metaphase chromosomes. The metaphases simultaneously exhibit silver-stained NORs and G bands, allowing...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00396478
更新日期:1978-07-12 00:00:00
abstract::Lactase is the intestinal enzyme responsible for digestion of the milk sugar lactose. Lactase gene expression declines dramatically upon weaning in mammals and during early childhood in humans (lactase nonpersistence). In various ethnic groups, however, lactase persists in high levels throughout adulthood (lactase per...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-012-1140-z
更新日期:2012-07-01 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::A previously identified complex mutation, affecting exon 28 of the neurofibromatosis type 1 gene, was employed for the analysis of the expression pattern in primary cultures of neurofibroma cells and melanocytes from a café-au-lait macule of the patient, respectively. Reverse transcription and subsequent polymerase ch...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220458
更新日期:1992-12-01 00:00:00
abstract::A locus, LP, that determines quantitative variation of Lp(a) lipoprotein phenotypes is linked to the plasminogen (PLG) locus (peak lod score = 12.73). This linkage relationship assigns a locus with alleles that have an affect on risk for coronary artery disease to the long arm of chromosome 6. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291716
更新日期:1988-05-01 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::The case of a newborn girl with Zellweger syndrome and a pericentric inversion of chromosome 7, 46,XX, inv(7)(p12q11.23), is reported. The diagnosis was confirmed by marked deficiency of peroxisomal beta-oxidation enzymes in hepatic cells from autopsy samples. This is the second case of Zellweger syndrome associated w...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210677
更新日期:1989-12-01 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::The gene responsible for X-linked cleft palate and ankyloglossia (CPX) has previously been localized to the proximal region of the q arm of the X chromosome in both Icelandic and North American Indian kindreds. In this study, further linkage analysis has been performed on the Icelandic family and has resulted in a sig...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00225205
更新日期:1995-03-01 00:00:00
abstract::In order to understand the role of the insulin receptor substrate-2 (IRS2) gene (chromosome region: 13q34) in obesity, a complex disorder associated with insulin resistance and glucose intolerance, we determined single nucleotide polymorphims (SNPs) and complex haplotypes in women with morbid obesity and a body mass i...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-0935-3
更新日期:2003-07-01 00:00:00
abstract::The gene locus for hereditary retinoblastoma is on human chromosome 13, band q14. With this gene localization in mind, we cloned DNA fragments from this chromosome. Three of the fragments identify restriction fragment length polymorphisms. These three fragments are from the region 13q12-13q22, the chromosome region wh...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291555
更新日期:1984-01-01 00:00:00
abstract::Centromere-specific multi-color FISH (cenM-FISH) is a new multicolor FISH technique that allows the simultaneous characterization of all human centromeres by using labeled centromeric satellite DNA as probes. This approach allows the rapid identification of all human centromeres by their individual pseudo-coloring in ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100459
更新日期:2001-03-01 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
abstract::A segregation analysis on 135 Duchenne families from Venetia (Italy) suggests that the proportion of sporadic cases might be less than expected. Support for this view is also given by an analysis of a pooled sample including 284 additional sibships from comparable studies published previously. Several hypotheses were ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291351
更新日期:1984-01-01 00:00:00
abstract::The authors report a case of a balanced 1;17 translocation with breakpoints located in the secondary constriction of chromosome 1. This translocation is associated with pathological symptoms similar to those observed following a proximal deletion of 1q. We request contact with colleques who have observed similar, or r...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00197700
更新日期:1990-12-01 00:00:00
abstract::The selective staining of a single butyrylesterase, following isoelectric focusing of red cell lysates from 14 mammalian species, including man, was achieved using the chromogenic substrate N-acetyl-L-alanine-alpha-naphthyl ester. This procedure optimized the identification of this enzyme, and a close correspondence o...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284657
更新日期:1983-01-01 00:00:00
abstract::Data for 27 cases of retinoblastoma that developed in patients with 13q- were collected from the literature and analyzed. The distribution of unilateral and bilateral cases of retinoblastoma differed significantly from the expectation that the degree of expressivity does not differ between the retinoblastoma gene and ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281568
更新日期:1980-01-01 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::Steroid sulfatase (STS) activities in female fibroblast strains are significantly higher than in male strains, as determined by cleavage of dehydroepiandrosterone sulfate. The difference is probably not due to hormonal control of gene expression, but suggests that for this X-linked locus there is no gene dosage compen...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278971
更新日期:1980-01-01 00:00:00
abstract::To develop a general method for analysis of the mutation and prenatal diagnosis of X-linked hyper-IgM syndrome (XHM), the human CD40 ligand (hCD40L) gene was cloned and sequenced with special reference to the 5' and 3' flanking regions and exon/intron boundaries. The hCD40L gene consists of five exons and four introns...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02265262
更新日期:1996-02-01 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::The structural abnormality of mRNA for argininosuccinate synthetase (ASS) and the structure of immune cross-reactive material for ASS (ASS-CRM) in the liver of a patient with type III citrullinemia were analyzed using dot and Northern blot hybridization, S1 nuclease analysis, and a sensitive enzyme-linked immunosorben...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283045
更新日期:1987-05-01 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::Forty cases of chronic myeloid leukemia (CML) were studied and subgroups of cases with similar chromosomal abnormalities in terminal stage were defined. Certain correlations were observed between the type of chromosomal changes, and clinical and morphologic manifestations of the disease: (1) It seems that, in cases wi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273096
更新日期:1978-03-17 00:00:00
abstract::The maternal age distribution of 45,X abortuses was significantly lower than that of chromosomally normal abortuses in two co-ordinated studies. One, carried out in Geneva, included 44 X-monosomic abortuses and the other, in Hiroshima, was based on 38 abortuses with a 45,X karyotype. It was deduced that 45,X conceptus...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00287168
更新日期:1979-10-01 00:00:00
abstract::The neurofibromatosis type 1 (NF1) gene located at 17q 11.2 contains 60 exons and spans 350 kb of genomic DNA. Mutation analysis has been hampered by the large size of the gene, the high rate of new mutations, a lack of mutational clustering and the presence of numerous homologous loci. Mutation detection methods base...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004399900135
更新日期:1999-10-01 00:00:00
abstract::In a patient with Shwachman syndrome, a high incidence of chromosome breakage was found. Chromosome studies done on three occasions on the patient's PHA-stimulated peripheral blood lymphocytes showed elevated frequencies of spontaneous chromosome aberrations compared with those in normal individuals. The patient's lym...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284489
更新日期:1987-11-01 00:00:00