Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Kunkel, Louis M.; Smith, Kirby D.; Boyer, Samuel H.; Borgaonkar, Digamber S.; Wachtel, Stephen S.; Miller, Orlando J.; Breg, W. Roy; Jones, Hope; Rary, Jack M.

doi:10.1073/pnas.74.3.1245

Cited by 1,191 publications

(375 citation statements)

References 18 publications

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“…Genomic DNA was isolated from peripheral blood leukocytes by a modified protocol of the Kunkel et al method [9]. Complete exon 28 of the gene was amplified by four different polymerase chain reactions (PCR).…”

Section: Genetic Analysismentioning

confidence: 99%

von Willebrand disease R1374C: Type 2A or 2M? A challenge to the revised classification. High frequency in the northwest of Spain (Galicia)

et al. 2005

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Patients initially diagnosed with type 1 von Willebrand disease (VWD) have been reclassified as type 2 after a more exhaustive analysis in several studies. Our study's objectives were (1) to reanalyze patients that were previously diagnosed as type 1 to achieve a more accurate diagnosis and (2) to compare the von Willebrand factor (VWF) ristocetin cofactor assay (VWF:RCo) and the VWF collagen binding assay (VWF:CB) in order to evaluate the possibility of replacing the former assay with the latter in the diagnosis of VWD. Twenty-one patients from two large unrelated families and 104 normal controls were studied. VWF:Ag, VWF:RCo, FVIII coagulant activity (FVIII:C), bleeding time (BT), PFA 100 , and multimeric analysis of VWF were tested. Genetic analysis by sequencing exon 28 on the VWF gene was also carried out. Patients presented lower levels of VWF:Ag and VWF:RCo, a dissociation between VWF:RCo/VWF:Ag, and the presence of all sizes of multimers in plasma VWF. The results for VWF:CB varied depending on the type of collagen used. The genetic analysis showed that the mutation R1374C is responsible for type 2M VWD. A high frequency of the R1374C mutation is observed in northwestern Spain (Galicia). Some types of 2M VWD are misdiagnosed as type 1 VWD. The VWF:CB (with type I collagen) assay was unable to discriminate defective platelet binding of the R1374C VWF. This confirms that VWF:CB cannot substitute for VWF:RCo, and both should be tested when diagnosing VWD. Am. J. Hematol. 80:188-196, 2005Hematol. 80:188-196, . ª 2005 Wiley-Liss, Inc.

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Section: Genetic Analysismentioning

confidence: 99%

von Willebrand disease R1374C: Type 2A or 2M? A challenge to the revised classification. High frequency in the northwest of Spain (Galicia)

et al. 2005

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“…The aims of the present study were (a) to determine the nature and frequency of both TP53 mutations and p53 protein accumulation in breast carcinomas, (b) DNA analyses DNA was isolated from tumour tissue by phenol/chlorophorm extraction followed by ethanol precipitation (Kunkel et al, 1977). Amplification of exons 5-8 of the TP53 gene was performed by the polymerase chain reaction (PCR) using primers and conditions as previously described (B0rresen et al, 1991;Smith-S0rensen et al, in press (1 fig IgG2U mI'), PAb 1801 diluted 1:300 (0.33 gtg IgG, ml-), PAb 240 diluted 1:100 (1 jg IgG, ml-'), and NCL-CM1 diluted 1:300).…”

mentioning

confidence: 99%

Prognostic significance of TP53 alterations in breast carcinoma

Andersen

Holm²,

Nesland³

et al. 1993

Br J Cancer

155

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“…Epstein-Barr virus-transformed lymphoblastoid cell lines and cultured peripheral blood lymphocytes were used as a source DNA from members of the 18 Japanese HD pedigrees. DNA was extracted from lymphocytes and lymphoblasts using the method of Kunkel et al (1977). DNA (5 t~g) from these cells was digested with appropriate restriction endonucleases (Accl, MboI, PstI, or TaqI), fractionated on 0.8-1.0~ agarose gels and transferred to GeneScreen (Du Pont, NEN Research) in an alkaline solution (0.5 N NaOH, 1.5 N NaC1).…”

Section: Methodsmentioning

confidence: 99%

A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families

et al. 1993

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SummaryAttempts to isolate the Huntington disease (HD) gene based on its position have been frustrated by apparently contradictory recombination events in HD pedigrees that have predicted two non-overlapping candidate regions: 100 kb at the telomere of the short arm of chromosome 4, and a 2.2 Mb region located internally at 4p16.3. The proximal location is also supported by the detection of a linkage disequilibrium between HD and some restriction fragment length polymorphisms (RFLPs) at the D4S95, D4S98, and D4S127 loci. In the present study, a proximal marker D4S95 showed tight linkage to the disease locus in Japanese pedigrees (Zm~x=3.31, 0~=0.00), while distal markers D4Sl15 and D4SIll did not. Particularly, a two point linkage analysis between D4S-111 and HD yielded a lod score -2.01 for 0=0.015. This result leads to the exclusion, as a possible region of localization of the HD gene, of more than 3 cM of the genome around D4Slll locus. At the same time our results favor aforementioned proximal location as a candidate location for the HD gene. Keg WordsHuntington disease, linkage analysis, D4S95, D4Sl15, D4S 111Received March 30, 1993; Revised Accepted April 13, 1993

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Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Cited by 1,191 publications

References 18 publications

von Willebrand disease R1374C: Type 2A or 2M? A challenge to the revised classification. High frequency in the northwest of Spain (Galicia)

von Willebrand disease R1374C: Type 2A or 2M? A challenge to the revised classification. High frequency in the northwest of Spain (Galicia)

Prognostic significance of TP53 alterations in breast carcinoma

A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families

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