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1.
2.
Ruxandra Ion L. Telvi Jean-Louis Chaussain Jacques Patrick Barbet Manoel Nunes Anne Safar Marie-Odile Réthoré Marc Fellous Ken McElreavey 《Human genetics》1998,102(2):151-156
In 46,XY individuals, testes are determined by the activity of the SRY gene (sex-determining region Y), located on the short arm of the Ychromosome. The other genetic components of the cascade
that leads to testis formation are unknown and may be located on the Xchromosome or on the autosomes. Evidence for the existence
of several loci associated with failure of male sexual development is indicated by reports of 46,XY gonadal dysgenesis associated
with structural abnormalities of the Xchromosome or of autosomes (chromosomes9, 10, 11 and 17). In this report, we describe
the investigation of a child presenting with multiple congenital abnormalities, mental retardation and partial testicular
failure. The patient had a homogeneous de novo 46,XY,inv dup(9)(pter→p24.1::p21.1 →p23.3::p24.1→qter) chromosome complement.
No deletion was found by either cytogenetic or molecular analysis. The SRY gene and DSS region showed no abnormalities. Southern blotting dosage analysis with 9p probes and fluorescent in situ hybridisation data
indicated that the distal breakpoint of the duplicated fragment was located at 9p24.1, proximal to the SNF2 gene. We therefore suggest that a gene involved in normal testicular development and/or maintenance is present at this position
on chromosome 9.
Received: 20 January 1997 / Accepted: 5 November 1997 相似文献
3.
4.
Sieglinde Ott 《Nordic Journal of Botany》1987,7(2):219-228
Thalli of Xanthoria parietina have been grown in cultures in the natural environment. In early phases of development the fungus associates with foreign algae and only later forms a symbiosis with Pseudotrebouxia . The lichen is shown to have a very effective mechanism for distribution by sexual spores followed by relichenization. 相似文献
5.
Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis. 总被引:6,自引:6,他引:0
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H Y Zoghbi L A Sandkuyl J Ott S P Daiger M Pollack W E O''''Brien A L Beaudet 《American journal of human genetics》1989,44(2):255-263
A 7-generation kindred with the HLA-linked form of spinocerebellar ataxia (SCA1) was studied to determine whether the SCA1 gene maps centromeric or telomeric to the HLA loci. The DNA markers flanking the HLA-(A-B) region were used for polymorphism studies and multilocus linkage analysis. These two markers are the cDNA for the beta-subunit of HLA-DP, which is centromeric to HLA-(A-B), and the cDNA for coagulation factor XIIIa (F13A), which is telomeric to HLA-(A-B). Haplotypes were constructed using multiple polymorphisms for these two DNA markers, and pairwise linkage analysis revealed a maximum lod score of 2.18 for SCA1 versus HLA-DP at a recombination fraction of .05 and a maximum lod score of 0 for SCA1 versus F13A at a recombination fraction of .50. A possible crossover between HLA-(A-B) and HLA-DP was identified, but lack of samples from key individuals hampered the analysis. To clarify the phase and improve the analysis, the two chromosomes 6 for the crossover individual were separated in somatic cell hybrids. The results strongly favored the probability that the crossover occurred between HLA-(A-B-DR) and HLA-DP with SCA1 segregating with HLA-DP, consistent with a location centromeric to HLA-(A-B). Multilocus linkage analysis was used to evaluate further the location of SCA1 relative to F13A, HLA-(A-B), and HLA-DP; the results indicated that the SCA1 gene locus is centromeric to HLA-DP with odds of 46:1 favoring this most likely location over the second most likely location, i.e., telomeric to HLA-(A-B) between the HLA complex and F13A. 相似文献
6.
Prolonged submaximal exercise and L-carnitine in humans 总被引:1,自引:0,他引:1
S Oyono-Enguelle H Freund C Ott M Gartner A Heitz J Marbach F Maccari A Frey H Bigot A C Bach 《European journal of applied physiology and occupational physiology》1988,58(1-2):53-61
Changes in the main physiological parameters and circulating indicators of carbohydrate, protein, lipid (and ketone body) metabolism were measured in ten exercising subjects before L-carnitine (L-carn) loading, after 4 weeks of daily loading with 2 g L-carn, and 6-8 weeks after terminating L-carn administration. Measurements were made on venous blood samples collected during each experiment at fixed time intervals over an initial rest of 45 min, 60 min bicycle exercise performed near 50% VO2max and 120 min recovery. Free and total plasma carnitine levels reached a plateau corresponding to an average rise of 25% for both fractions, 9-10 days after the beginning of the L-carn diet. These levels returned to their initial values 6-8 weeks after cessation of the supply. Generally L-carn supplementation did not significantly modify the physiological parameters and circulating metabolites. No distinct increase of the relative participation of endogenous lipids in the fuel supply of prolonged submaximal exercise was observed. In normal human subjects the increased demand for fatty acid oxidation resulting from exercise seems to be adequately supported by endogenous levels of carnitine. 相似文献
7.
Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci 总被引:4,自引:1,他引:3
J. Ott E. J. B. M. Mensink A. Thompson J. D. L. Schot R. K. B. Schuurman 《Human genetics》1986,74(3):280-283
Summary In nine family pedigrees in which X-linked agammaglobulinemia (XLA) is segregating, a multi-point linkage analysis has been carried out. In each family, the map distance, d, between XLA and a fixed point in a known map of nine RFLP loci on the X chromosome was estimated by calculating the log likelihoods, L(d). Using a new method, the 10-point likelihood was approximated by appropriately combining three 4-point likelihoods. Homogeneity tests (admixture tests) were performed showing clear evidence for heterogeneity of XLA. 相似文献
8.
Cécile Bordarier O. Robain Marie-Odile Rethoré O. Dulac Caroline Dhellemes 《Human genetics》1986,73(4):374-378
Summary An anatomoclinical observation of agyria is reported. The karyotype revealed a partial deletion of the short arm of chromosome 17. The etiology of agyria is reviewed in the light of this chromosomal abnormality. In addition we describe the peculiar pattern of neurons in the cortex: Golgi stain demonstrated many inverted pyramidal cells in the superficial part of the cortical layer. The mechanism of this abnormality is discussed. 相似文献
9.
Jörg Hacker Manfred Ott Günter Schmidt Richard Hull Werner Goebel 《FEMS microbiology letters》1986,36(2-3):139-144
Abstract The genetic determinant coding for the P-specific F8 fimbriae was cloned from the chromosome of the Escherichia coli wild-type strain 2980 (O18:K5:H5:F1C, F8). The F8 determinant was further subcloned into the Pst I site of pBR322 and a restriction map was established. In a Southern hybridization experiment identity between the chromosomally encoded F8 determinant of 2980 and its cloned counterpart was demonstrated. The cloned F8 fimbriae and those of the wild type strain consist of a protein subunit of nearly 20 kDa. F8 fimbriated strains were agglutinated by an F8 polyclonal antiserum, caused mannose-resistant hemagglutination and attached to human uroepithelial cells. The cloned F8 determinant was well expressed in a variety of host strains. 相似文献
10.
Poly(2-methylthio-7-deazainosinic acid)--hydrophobic stabilization of polynucleotide secondary structure by the 2-methylthio group. 总被引:1,自引:1,他引:0
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Poly(2-methylthio-7-deazainosinic acid) [poly(ms2c7I)] was enzymatically synthesized by polymerization of 2-methylthio-7-deazainosine 5'-diphosphate with polynucleotide phosphorylase from Micrococcus luteus in high yield. The homopolymer shows much higher thermal stability than its parent polynucleotides poly(7-deazainosinic acid) [poly(c7I)] and poly(I). Its sigmoidal melting curve and pronounced hypochromicity imply a rigid, ordered structure. Poly(ms2c7I), like poly(2-methylthio-inosinic acid) [poly(ms2I)], does not form a complex with poly(C) because of the bulky 2-methylthio substituent. On the other hand, two poly(ms2c7I) strands form very rigid triple strands with poly(A). Different from poly(I) and poly(c7I) the homopolymer poly(ms2c7I) is very stable against cleavage by nuclease S1 and ribonuclease T2 as expected from its rigid secondary structure. 相似文献