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931.
L. Kádasi J. Gécz J. Matúšek T. Krivušová V. Ferák M. Devoto J. Hruškovič G. Romeo 《Human genetics》1992,89(3):305-306
Summary Analysis of a sample of 50 unrelated cystic fibrosis (CF) patients and 46 nuclear families from Slovakia (Czechoslovakia) by the polymerase chain reaction and Southern hybridization revealed that the proportion of the F508 mutation was 58% in this population, and that the frequency of the B (i.e., KM19/XV2c [1–2]) haplotype was increased in both F508 and nonF508 CF chromosomes (98% and 46%, respectively). These results support the view that the trans-European gradient of the F508 frequency is of a geographical rather than of an ethnic origin, and that in Slavonic populations, there exists an as yet unidentified but frequent CF mutation other than F508, associated with the B haplotype. 相似文献
932.
A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY 总被引:4,自引:0,他引:4
Ken McElreavey Raphaël Rappaport Eric Vilain Nacer Abbas François Richaud Stéphen Lortat-Jacob Roland Berger Maryvonne LeConiat Chafika Boucekkine Kiran Kucheria Samia Temtamy Claire Nihoul-Fekete Raja Brauner Marc Fellous 《Human genetics》1992,90(1-2):121-125
Summary A total of 30 cases of 46,XX true hermaphroditism was analysed for Y-DNA sequences including the recently cloned gene for male testis-determination SRY. In 3 cases, a portion of the Y chromosome including SRY was present and, in 2 cases, was localised, to Xp22 by in situ hybridisation. Since previous studies have shown that the majority of XX males are generated by an X-Y chromosomal interchange, the Xp22 position of the Yp material suggests that certain cases of hermaphroditism can arise by the same meiotic event. The phenotype in the 3 SRY-positive cases may be caused by X-inactivation resulting in somatic mosaicism of testis-determining factor expression giving rise to both testicular and ovarian tissues. Autosomal or X-linked mutation(s) elsewhere in the sex-determining pathway may explain the phenotype observed in the remaining 27 SRY-negative cases. 相似文献
933.
Summary We have screened seven Spanish phenylketonuric (PKU) families for the most prevalent Mediterranean and Caucasian mutations, and have subsequently found mutations P281L and IVS10. We have analyzed these two mutations in 23 of our patients. The frequencies found correspond to those of Mediterranean countries, such as Italy. This is the first report of a mutation analysis in the Spanish PKU population. 相似文献
934.
Jacques Simard Dominique Bérubé Märten Sandberg Karl-Heinz Grzeschik Richard Gagné Vidar Hansson Tore Jahnsen 《Human genetics》1992,88(6):653-657
Summary A cDNA for the human catalytic subunit (C) of cAMP-dependent protein kinase (PKA) has been cloned from a testis cDNA library. In the present study, we have determined the chromosomal localization of this gene using a cDNA for C as a probe. Southern blot analysis of genomic DNA from human/mouse cell hybrids revealed that the presence or absence of a 20-kbXbaI fragment, which hybridized with the C probe, was concordant with the presence of human chromosome 1.In situ hybridization to metaphase chromosome confirmed the somatic cell hybrid data and regionally mapped the C gene of PKA to the p36 band on chromosome 1. 相似文献
935.
Marie-Laure Yaspo Nathalie Crété Zoubida Chettouh Jean-Louis Blouin Zohra Rahmani Dominique Stehelin Pierre-Marie Sinet Nicole Créau-Goldberg Jean-Maurice Delabar 《Human genetics》1992,90(4):427-434
To generate new chromosome 21 markers in a region that is critical for the pathogenesis of Down syndrome (D21S55-MX1), we used pulsed field gel electrophoresis (PFGE) to isolate a 600-kb NruI DNA fragment from the WA17 hybrid cell line, which has retained chromosome 21 as the only human material. This fragment, which contains the oncogene ETS2, was used to construct a partial genomic library. Among the 14 unique sequences that were isolated, 3 were polymorphic markers and contained sequences that are conserved in mammals. Five of these markers mapped on the ETS2-containing NruI fragment and allowed us to define an 800-kb high-resolution PFGE map. 相似文献
936.
J. Hundrieser P. Nürnberg A. E. Czeizel Julia Métneki Siegrid Rothgänger H. Zischler J. T. Epplen 《Human genetics》1992,90(1-2):27-33
Summary Population genetic studies were performed using oligonucleotide probes (Hz1103, Hz4103, and Hz4201) that recognize three hypervariable loci (D11S859, D9S128 and D22S265) in the human genome. DNA from 17 Eurasian population samples including 37 monozygotic twin pairs were digested with HinfI and hybridized with Hz4103. Allele frequency distribution profiles and high degrees of heterozygosity were similar in each ethnic group. Among 804 unrelated individuals tested, we detected one case of mosaicism caused by a somatic recombination event in a monozygotic twin. In addition, samples of DNA from three ethnic groups (Germans, Assamese Hindus and Thais) and from German and Thai families were restricted with MboI and probed with Hz1103, Hz4103, and Hz4201. The results showed considerable degrees of heterozygosity and locus-specific allele distribution profiles, rather than interpopulation differences. Among 262 meioses (12 three-generation families with a total of 131 children) analyzed, a single recombination event was observed following hybridization with the DNA probe Hz4201. 相似文献
937.
C. Lapouniéroulie O. Dunda R. Ducrocq G. Trabuchet M. Mony-Lobé J. M. Bodo P. Carnevale D. Labie J. Elion R. Krishnamoorthy 《Human genetics》1992,89(3):333-337
Summary The sickle cell mutation (s) arose as at least three independent events in Africa and once in Asia, being termed the Senegal, Benin, Bantu and Indian types respectively. An investigation in Cameroon was carried out to determine whether the atypical sickle genes observed in the neighboring countries are the result of recombination or the presence of a sickle cell mutation of a different genetic origin. It was conducted on 40 homozygous SS patients followed at the Blood Transfusion Center in the capital city of Yaoundé. On 80 s chromosomes, 13 exhibited a novel polymorphic pattern that was observed three times in the homozygous state. This chromosome contains an AT gene. The restriction fragment length polymorphism haplotype is different from all the other s chromosomes in both the 5 and 3 regions, but has previously been reported in sporadic cases. The (AT)8(T)5 sequence in the — 500 region of the gene is specific and different from that of the Senegal, Benin, Bantu or Indian s genes. All the carriers of this specific chromosome belong to the Eton ethnic group and originate from the Sanaga river valley. This observation strongly argues for yet another independent origin of the sickle cell mutation in Africa, here referred to as the Cameroon type. The Benin haplotype and a Benin/ Bantu recombinant haplotype have been observed in the other studied populations: Ewondo, Bamiléké, Bassa, Yambassa and Boulou. 相似文献
938.
Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family 总被引:25,自引:0,他引:25
Danièle Carré-Eusèbe Sandrine Imbeaud Madeleine Harbison Maria I. New Nathalie Josso Jean-Yves Picard 《Human genetics》1992,89(4):389-394
Summary The human genome contains a large number of interspersed simple repeat sequences that are variable in length and can therefore serve as highly informative, polymorphic markers. Typing procedures include conventional multilocus and single locus probing, and polymerase chain reaction aided analysis. We have identified simple sequences in a cosmid clone stemming from the human Y chromosome and consisting of (gata)n repeats. We have compared these with two equivalent simple repeat loci from chromosome 12. After amplifying the tandemly repeated motifs, we detected between four and eight different alleles at each of the three loci. Codominant inheritance of the alleles was established in family studies and the informativity of the simple repeat loci was determined by typing unrelated individuals. The polymorphisms are suitable for application in linkage studies, practical forensic case work, deficiency cases in paternity determination, and for studying ethnological questions. The mutational mechanisms that bring about changes in simple repeats located both on the autosomes and on the sex chromosomes, are discussed.Professor Dr. Otto Prokop (Humboldt-Universität Berlin) on the occasion of his 70th birthday 相似文献
939.
Roy E. Crabtree Edward C. Cyr Renée E. Bishop Laura M Falkenstein John M. Dean 《Environmental Biology of Fishes》1992,35(4):361-370
Synopsis Leptocephali were collected in June 1981 and July 1989 over the continental shelf and slope of the Florida west coast. Tarpon larvae ranged 5.5–24.4 mm standard length (SL) and were the second most abundant leptocephalus species. Sagittae examined with compound microscopes and scanning electron microscopy had increments that were presumed to be formed daily. Increment counts made using the two microscopic techniques were not significantly different. Estimated ages ranged 2–25 days with a growth rate (± standard error) of 0.92 ± 0.04 mm d–1 The least squares linear regression equation SL = 2.78 + 0.92 (age in days) best described the relationship between estimated age and length. Adult tarpon appear to undergo a substantial spawning migration from inshore areas frequented during spring and summer to offshore spawning grounds. Spawning occurs during May, June, and July, although the spawning season may be of greater duration. 相似文献
940.
The floral biology ofTetrastylis ovalis and its pollination by bats was studied in southeastern Brazil. The flowers ofT. ovalis seem more fitted to bat-pollination than those ofPassiflora mucronata, the other known chiropterophilous passionflower. Two species of bats were observed visiting flowers ofT. ovalis: the phyllostomidsGlossophaga soricina andRhinophylla pumilio. Due to the attributes ofTetrastylis, its presumed primitiveness and a better defined bat-pollination syndrome we suggest that chiropterophily evolved independently in the former genus and inPassiflora. 相似文献