Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 622-643

Kidd, K.K.; Bowcock, Anne M.; Schmidtke, Jörg; Track, R.K.; Ricciuti, F.; Hutchings, G.; Bale, Allen E.; Pearson, P.; Willard, H.F.; Gelernter, Joel

doi:10.1159/000132810

Cited by 165 publications

(38 citation statements)

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“…22 Hybridization to filters, washing, and autoradiography, with subsequent stripping and reprobing, followed established procedures as previously described. 15 Nonpaternity, unreported adoption, and mishandled samples were largely eliminated from the study population through determination of pedigree relationships by genotyping with highly polymorphic VNTR probes (loci) YNH24 (D2S44), PAW101 (D14S1), MSI (D1S7), 23 and CMM101 (R. White, unpublished probe) on two independent filter sets. Linkage analysis at the antiporter locus was studied Linkage analysis in pedigrees was conducted with the LINKMAP subroutine of the LINKAGE computer program.…”

Section: Methodsmentioning

confidence: 99%

Exclusion of the Na(+)-H+ antiporter as a candidate gene in human essential hypertension.

et al. 1991

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Section: Methodsmentioning

confidence: 99%

Exclusion of the Na(+)-H+ antiporter as a candidate gene in human essential hypertension.

et al. 1991

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“…So far, alpha satellite repeat units specific to each human chromosomes type have isolated except for chromosome 2, and 15 (Kidd et al, 1989). Our result suggests that all the centromeric regions of human chromosomes are dominated with a variety of human alphoid sequences, which are recognized by the consensus sequence derived from 153 and 145 monomer units.…”

Section: Resultsmentioning

confidence: 68%

Application of synthetic DNA probes of human alpha satellite consensus monomer for detection of centromereinvolved chromosome abnormalities

1990

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SummaryWe have synthesized the alphoid monomer of 171 bp based on the consensus sequence of human alpha satellite DNA and constructed a clone of dimeric or tetrameric sequence unit. Southern blot analysis using the clone as a probe showed restriction site periodicities in human DNA digested by EcoRI or BamHI. The synthetic consensus unit could detect the alpha repeated centromeric regions of all human chromosomes by fluorescence in situ hybridization. Using the cells having a dicentric X chromosome, we showed that the two centromeric regions were stained with fluorescent alpha satellite DNA probes. Thus the probe would be useful to detect chromosomal abnormalities such as dicentrics.

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“…Densitometric analysis on polymorphic DNA fragments detected by Fr8-77/ BamHI (Kidd et al, 1989) interpreted the genotypes of the father, the mother, and the patient as 4.0 kb/4.0 kb, 4.3 kb/4.3 kb, and 4.3 kb/-, respectively (Table 1, Fig. 4b).…”

Section: Resultsmentioning

confidence: 99%

“…Kurnit), FB68L [the amyloid beta (A4) precursor protein gene (APP), 21@1.2] (provided by Dr. R.E. Tanzi), pGSE8 (D21S17, 21q22.3), pGSE9 (provided by Dr. G.D. Stewart), and Fr8-77 (Kidd et al, 1989). Genomic DNA was extracted from peripheral blood leukocytes or lymphoblastoid cell lines of the patient and her parents.…”

Section: Cytogenetic and Molecular Studiesmentioning

confidence: 99%

Monosomy for 21pter-q21: Case report and assignment of a DNA clone (Fr8-77) to the deleted segment

et al. 1990

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SummaryA 4-month-old Japanese girl with partial monosomy 21 was described. The patient has craniofacial anomalies, a short neck, wide-set nipples, anal atresia, deformed feet, hypertonia, intrauterine growth retardation, and mental deficiency. RFA-and high-resolution GTG-banding chromosome analyses, and Southern-and slot-blot analyses interpreted her karyotype as 45,XX,-2,-21,+der(2)t(2;21)(q37.3;q22.1).The origin of this de novo translocation ascertained by analyses with both QFQheteromorphisms and a Fr8-77/BamHI RFLP was paternal. Comparison of the patient with previously reported patients confirmed that her manifestations are consistent with those of monosomy for 21pter-q21. Based on the results of molecular analyses on the present patient, a DNA clone, Fr8-77 (D21 $82), was assigned to pter-q21.

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Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 622-643

Cited by 165 publications

References 0 publications

Exclusion of the Na(+)-H+ antiporter as a candidate gene in human essential hypertension.

Exclusion of the Na(+)-H+ antiporter as a candidate gene in human essential hypertension.

Application of synthetic DNA probes of human alpha satellite consensus monomer for detection of centromereinvolved chromosome abnormalities

Monosomy for 21pter-q21: Case report and assignment of a DNA clone (Fr8-77) to the deleted segment

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