abstract：:The gene for X-linked nephrogenic diabetes insipidus (NDI), a disorder which, if untreated, causes severe dehydration, mental retardation, and possibly death in affected males, has been mapped recently to the Xq28 band through demonstration of linkage to the DX552 locus and other DNA markers (N. Knoers et al., 1987, C...

journal_title：Genomics

authors： Knoers N,van der Heyden H,van Oost BA,Monnens L,Willems J,Ropers HH

更新日期：1989-04-01 00:00:00

abstract：:Mice carrying the autosomal recessive rd gene experience total degeneration of the photoreceptor cells of the retina by 3 to 4 weeks of life. Biochemical studies of the rd retina have demonstrated a lesion in cyclic guanosine monophosphate (cGMP) metabolism due to depressed rod-specific cGMP-phosphodiesterase (cGMP-PD...

journal_title：Genomics

authors： Danciger M,Kozak CA,Farber DB

更新日期：1989-02-01 00:00:00

abstract：:The human homologs of the mouse homeo box-containing genes, En-1 and En-2, which show homology to the Drosophila engrailed gene, have been isolated. The human EN1 gene was mapped to chromosome 2 by analysis of mouse-human somatic cell hybrids. The human EN2 gene was localized to chromosome 7, 7q32-7qter, by analysis o...

journal_title：Genomics

authors： Logan C,Willard HF,Rommens JM,Joyner AL

更新日期：1989-02-01 00:00:00

abstract：:A linkage analysis with chromosome 9 markers was performed in 33 families with Friedreich ataxia (FA). Linkage with D9S15, previously established by S. Chamberlain et al. (1988, Nature London 334:248-249) was confirmed in our sample (z(theta) = 6.82 at theta = 0.02) while INFB (interferon-beta gene) shows looser linka...

journal_title：Genomics

authors： Fujita R,Agid Y,Trouillas P,Seck A,Tommasi-Davenas C,Driesel AJ,Olek K,Grzeschik KH,Nakamura Y,Mandel JL,Hanauer A

更新日期：1989-01-01 00:00:00

abstract：:Six of the human minisatellites detected by DNA fingerprint probes have been localized by in situ hybridization to human metaphase chromosomes. These hypervariable loci are not dispersed at random in the human genome, but show preferential, though not exclusive, localization to terminal G-bands of human autosomes. Two...

journal_title：Genomics

authors： Royle NJ,Clarkson RE,Wong Z,Jeffreys AJ

更新日期：1988-11-01 00:00:00

abstract：:A MspI polymorphism was detected in the beta-glucocerebrosidase gene in 10 Swedish families affected by type III Gaucher's disease. The sizes of the polymorphic fragments were 1.70 and 1.75 kb and the disease was found to segregate with the 1.70-kb fragment in 32 meioses. Only the 1.75-kb fragment was detected in fami...

journal_title：Genomics

authors： Dahl N,Erikson A,Hammarström-Heeroma K,Pettersson U

更新日期：1988-11-01 00:00:00

abstract：:We discuss the statistical significance of local similarities found between DNA sequences, and illustrate the procedure with reference to the Queen and Korn algorithm. If the longest similarity found for two sequences has length L, this length is said to be significant at the 5% level if there is a probability of no m...

journal_title：Genomics

authors： Brooks LD,Weir BS,Schaffer HE

更新日期：1988-10-01 00:00:00

abstract：:Chromosome 11p13 is frequently rearranged in individuals with the WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) or parts of this syndrome. To map the cytogenetic aberrations molecularly, we screened DNA from cell lines with known WAGR-related chromosome abnormalities for rearra...

journal_title：Genomics

authors： Gessler M,Bruns GA

更新日期：1988-08-01 00:00:00

abstract：:We report a genetic linkage map of the pericentromeric region of the human X chromosome, extending from Xp11 to Xq13. Genetic analysis with five polymorphic markers, including centromeric alpha satellite DNA, spanned a distance of approximately 38 cM. Significant lod scores were obtained with linkage analysis in 26 fa...

journal_title：Genomics

authors： Mahtani MM,Willard HF

更新日期：1988-05-01 00:00:00

abstract：:The complete nucleotide sequence of murine beta-glucuronidase (GUS) mRNA has been compiled from three overlapping cloned cDNAs and a single GUS-specific genomic clone. The sequence is composed of 2455 nucleotides, exclusive of the poly(A) tail. The 5' and 3' untranslated regions contain 12 and 499 bases, respectively,...

journal_title：Genomics

authors： Gallagher PM,D'Amore MA,Lund SD,Ganschow RE

更新日期：1988-04-01 00:00:00

abstract：:Data from family studies demonstrating RH:MYCL linkage (zeta = 4.07 at theta = 0.09) in paternal meioses are presented. Although positive, MYCL:PGM1 lods are not of the magnitude of those for RH:MYCL. Taken together, these results are consistent with the physical assignment of MYCL to 1p32. Furthermore, evidence to su...

journal_title：Genomics

authors： Zelinski T,Verville G,White L,Hamerton JL,McAlpine PJ,Lewis M

更新日期：1988-02-01 00:00:00

abstract：:Deletions giving rise to Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) occur in the same large gene on the short arm of the human X chromosome. We present a molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions...

journal_title：Genomics

authors： Monaco AP,Bertelson CJ,Liechti-Gallati S,Moser H,Kunkel LM

更新日期：1988-01-01 00:00:00

abstract：:Thirty-eight kilobases of mouse genomic DNA which surround and include the coding sequences for beta-glucuronidase has been mapped. Intron-exon arrangements were determined by hybridization of genomic sequences with cDNA clones, and minimum estimates of gene length (11-17 kb) and intron number were obtained. Only a si...

journal_title：Genomics

authors： Moore KJ,Paigen K

更新日期：1988-01-01 00:00:00

abstract：:We have characterized three terminal deletions of the long arm of the X chromosome. Southern analysis using Xq27/q28 probes suggests that two of the deletions have breakpoints near the fragile site at Xq27.3. Flow karyotype analysis provides an estimate of 12 X 10(6) bp for the size of the deleted region. We have not ...

journal_title：Genomics

authors： Patterson M,Schwartz C,Bell M,Sauer S,Hofker M,Trask B,van den Engh G,Davies KE

更新日期：1987-12-01 00:00:00

abstract：:A genetic linkage study of the RFLPs identified by nine DNA probes localized to the pericentromeric region and long arm of chromosome 17 has been undertaken in 16 families with von Recklinghausen neurofibromatosis (NF1). Close linkage has been shown with the markers CRI-L946 (D17S36), CRI-L581 (D17S37), p17H8 (D17Z1),...

journal_title：Genomics

authors： Upadhyaya M,Sarfarazi M,Huson SM,Stephens K,Broadhead W,Harper PS

更新日期：1987-12-01 00:00:00

abstract：:The genetic linkage of Chediak-Higashi syndrome and its murine analog, beige (bg), to the T-cell receptor (TCR-gamma) gamma chain gene is further defined. Previous studies using recombinant inbred strains of mice demonstrated that the murine bg gene is genetically linked to a murine TCR-gamma gene. We report that in t...

journal_title：Genomics

authors： Holcombe RF,Strauss W,Owen FL,Boxer LA,Warren RW,Conley ME,Ferrara J,Leavitt RY,Fauci AS,Taylor BA

更新日期：1987-11-01 00:00:00

abstract：:Thirty-four random DNA probes from the terminal half of the human chromosome 4 short arm were further localized within 4pter----p15.1. A panel of somatic cell hybrid lines defining six chromosomal regions within 4pter----p15.1 was constructed using human cell lines containing translocation or deletion chromosomes. The...

journal_title：Genomics

authors： MacDonald ME,Anderson MA,Gilliam TC,Tranejaerg L,Carpenter NJ,Magenis E,Hayden MR,Healey ST,Bonner TI,Gusella JF

更新日期：1987-09-01 00:00:00