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MeSH Review

Polymorphism, Single-Stranded Conformational

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Disease relevance of Polymorphism, Single-Stranded Conformational


Psychiatry related information on Polymorphism, Single-Stranded Conformational


High impact information on Polymorphism, Single-Stranded Conformational

  • Using SSCP analysis and sequencing of genomic DNA, we found EBP mutations in all probands [10].
  • Here we report that the currently available mutation spectrum of BRCA1 has been biased by PCR-based mutation-screening methods, such as SSCP, the protein truncation test (PTT) and direct sequencing, using genomic DNA as template [11].
  • Using single strand conformation polymorphism (SSCP) analysis and nucleotide sequencing we have identified COMP mutations in eight familial and isolated PSACH cases [12].
  • We found SSCP variations in the B exon of FGFR2 in nine unrelated affected individuals as well as complete cosegregation between SSCP variation and disease in three unrelated multigenerational families [13].
  • RESULTS--A DNA alteration in the merlin coding sequence caused a shift on SSCP gels that was characteristic of the disease chromosome in this NF2 pedigree, being transmitted with the disorder, present only in affected members of the pedigree, absent in unaffected members of the family, and absent from 158 unrelated individuals [14].

Chemical compound and disease context of Polymorphism, Single-Stranded Conformational


Biological context of Polymorphism, Single-Stranded Conformational

  • DESIGN--Single-strand conformational polymorphism (SSCP) and DNA sequence analysis of the NF2 gene amplified from affected and unaffected family members [14].
  • The polymerase chain reaction (PCR) technique, followed by single-strand conformation polymorphism (SSCP) and nucleotide sequence analyses, were used to identify the types and frequencies of mutations in exons 1, 1beta, 2, and 3 of the CDKN2A gene and in exons 1 and 2 of the CDKN2B gene [19].
  • In the present study, the analysis of the GDE gene in three GSD-IIIb patients by single-strand conformation polymorphism (SSCP), DNA sequencing, restriction analysis, and family studies, revealed each of them as being a compound heterozygote for two different mutations [20].
  • The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants [21].
  • Seventy-five of these GALT genomes had abnormal SSCP patterns, of which 41 were sequenced, yielding 12 new and 21 previously reported, rare mutations [22].

Anatomical context of Polymorphism, Single-Stranded Conformational

  • The technique of single-strand conformation polymorphism (SSCP) was used to screen a series of 37 established colorectal cell lines, 22 fresh tumor samples, and 22 normal DNA samples for mutations in the beta 2-microglobulin gene [23].
  • Using reverse transcriptase-polymerase chain reaction (RT-PCR), single-stranded conformation polymorphism (SSCP) analysis, and DNA sequencing, we examined the cDNA structure of the Fas antigen in 54 bone marrow (BM) specimens obtained from myeloma patients [24].
  • To assess the prevalence of activated TC21 oncogenes in human tumors, we have developed sensitive single-strand conformational polymorphism (SSCP) conditions and immunological reagents for the detection of both single base alterations and/or overt overexpression in a wide spectrum of human tumor cell lines and surgical samples [25].
  • Somatic point mutations in p53 were found by SSCP in 2/33 papillary thyroid carcinomas, with one missense mutation (exon 5, codon 160 ATGmet-->GTGval) and another silent mutation (codon 182, TGCcys-->TGTcys) [26].
  • We then screened for PTCH mutations in 'hot spot' exons 6, 8, 13 and 16 by PCR/SSCP analysis of genomic DNAs from 54 TCC tumor samples and control autologous peripheral blood lymphocytes [27].

Associations of Polymorphism, Single-Stranded Conformational with chemical compounds

  • We screened the affected individuals for EPOR gene mutations using SSCP analysis and found a C5964G mutation in exon VIII that changes tyrosine codon 426 to a translation termination codon resulting in an EPOR protein truncated by 83 amino acids [28].
  • The amplified products were analyzed, by electrophoresis in nondenaturing polyacrylamide gels, for the presence of either heteroduplexes, derived from the annealing of normal and mutant DNA strands, or single-strand conformational polymorphisms (SSCP), derived from the renaturation of single-stranded DNA [29].
  • We screened the G4.5 gene for mutations in this family with SSCP and direct sequencing and found a novel glycine-to-arginine substitution at position 197 [30].
  • Low-ionic strength single-stranded conformation polymorphism (SSCP) analysis and sequence analysis showed that the proband's gene for factor XII had an A-->G substitution at nucleotide position 7832 in exon 3, resulting in a Tyr34 to Cys substitution in the NH2-terminal type II domain of factor XII [31].
  • Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome [32].

Gene context of Polymorphism, Single-Stranded Conformational

  • METHODS: Tumor DNA from carriers and noncarriers of BRCA1 mutations was screened for mutations in exons 4 through 10 of the p53 gene by use of the polymerase chain reaction and single-strand conformation polymorphism (SSCP) analysis of the amplified DNA [33].
  • In addition, the mutational screening of CLCN5 by SSCP will help to supplement the clinical evaluation of the annual urinary screening program for this disorder [34].
  • Sixty-three unrelated MEN1 kindreds (195 affected and 396 unaffected members) were investigated for mutations in the 2,790-bp coding region and splice sites, by SSCP and DNA sequence analysis [35].
  • SSCP analysis and direct sequencing revealed a mutation in the PAX6 exon 11 splice-acceptor site [36].
  • METHODS AND RESULTS: After studying 115 families with LQTS, we used single-strand conformation polymorphism (SSCP) and DNA sequence analysis to identify mutations in the cardiac potassium channel gene, KVLQT1 [37].

Analytical, diagnostic and therapeutic context of Polymorphism, Single-Stranded Conformational

  • To answer this question the remaining RB1 allele of eight clones with hemizygous deletions was studied by reverse transcription-polymerase chain reaction (RT-PCR), single-strand conformation polymorphism (SSCP) analysis, and immunofluorescense techniques [38].
  • A combination of protein-truncation test and SSCP or heteroduplex analyses was used for mutation screening complemented, where possible, by the analysis of expression level of BRCA1 and BRCA2 alleles [39].
  • None of six studied by immunohistochemistry showed overexpression of p53 and only 1 of 4 studied by SSCP/sequencing showed the presence of mutation in the pretransformation biopsy [40].
  • Capillary electrophoresis SSCP typing of a haplotype consisting of two common SNPs within EAAC1 revealed no significant linkage disequilibrium [41].
  • To determine if FHIT alterations play a role in human squamous cell carcinogenesis of the head and neck (HNSCC), we examined the gene and its product by RT-PCR, SSCP, Northern, Southern, and Western blot analysis in primary HNSCC and/or HNSCC cell lines [42].


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  8. Missense mutation of the cholecystokinin B receptor gene: lack of association with panic disorder. Kato, T., Wang, Z.W., Zoega, T., Crowe, R.R. Am. J. Med. Genet. (1996) [Pubmed]
  9. The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. Bhalla, K., Phillips, H.A., Crawford, J., McKenzie, O.L., Mulley, J.C., Eyre, H., Gardner, A.E., Kremmidiotis, G., Callen, D.F. J. Hum. Genet. (2004) [Pubmed]
  10. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. Braverman, N., Lin, P., Moebius, F.F., Obie, C., Moser, A., Glossmann, H., Wilcox, W.R., Rimoin, D.L., Smith, M., Kratz, L., Kelley, R.I., Valle, D. Nat. Genet. (1999) [Pubmed]
  11. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Petrij-Bosch, A., Peelen, T., van Vliet, M., van Eijk, R., Olmer, R., Drüsedau, M., Hogervorst, F.B., Hageman, S., Arts, P.J., Ligtenberg, M.J., Meijers-Heijboer, H., Klijn, J.G., Vasen, H.F., Cornelisse, C.J., van 't Veer, L.J., Bakker, E., van Ommen, G.J., Devilee, P. Nat. Genet. (1997) [Pubmed]
  12. Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Hecht, J.T., Nelson, L.D., Crowder, E., Wang, Y., Elder, F.F., Harrison, W.R., Francomano, C.A., Prange, C.K., Lennon, G.G., Deere, M. Nat. Genet. (1995) [Pubmed]
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  14. DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree. MacCollin, M., Mohney, T., Trofatter, J., Wertelecki, W., Ramesh, V., Gusella, J. JAMA (1993) [Pubmed]
  15. A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Heine, R., Pika, U., Lehmann-Horn, F. Hum. Mol. Genet. (1993) [Pubmed]
  16. Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV. Nuytinck, L., De Paepe, A., Renard, J.P., Adriaens, F., Leroy, J. Hum. Mutat. (1994) [Pubmed]
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  18. Infrequent mutation of Ha-ras and p53 in rat mammary carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. Ushijima, T., Kakiuchi, H., Makino, H., Hasegawa, R., Ishizaka, Y., Hirai, H., Yazaki, Y., Ito, N., Sugimura, T., Nagao, M. Mol. Carcinog. (1994) [Pubmed]
  19. Screening of germline mutations in the CDKN2A and CDKN2B genes in Swedish families with hereditary cutaneous melanoma. Platz, A., Hansson, J., Månsson-Brahme, E., Lagerlof, B., Linder, S., Lundqvist, E., Sevigny, P., Inganäs, M., Ringborg, U. J. Natl. Cancer Inst. (1997) [Pubmed]
  20. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. Shen, J., Bao, Y., Liu, H.M., Lee, P., Leonard, J.V., Chen, Y.T. J. Clin. Invest. (1996) [Pubmed]
  21. Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Górski, B., Byrski, T., Huzarski, T., Jakubowska, A., Menkiszak, J., Gronwald, J., Pluzańska, A., Bebenek, M., Fischer-Maliszewska, L., Grzybowska, E., Narod, S.A., Lubiński, J. Am. J. Hum. Genet. (2000) [Pubmed]
  22. Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. Elsas, L.J., Langley, S., Steele, E., Evinger, J., Fridovich-Keil, J.L., Brown, A., Singh, R., Fernhoff, P., Hjelm, L.N., Dembure, P.P. Am. J. Hum. Genet. (1995) [Pubmed]
  23. Beta 2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors. Bicknell, D.C., Rowan, A., Bodmer, W.F. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
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  26. Prevalence of mutations of ras and p53 in benign and malignant thyroid tumors from children exposed to radiation after the Chernobyl nuclear accident. Nikiforov, Y.E., Nikiforova, M.N., Gnepp, D.R., Fagin, J.A. Oncogene (1996) [Pubmed]
  27. PTCH gene mutations in invasive transitional cell carcinoma of the bladder. McGarvey, T.W., Maruta, Y., Tomaszewski, J.E., Linnenbach, A.J., Malkowicz, S.B. Oncogene (1998) [Pubmed]
  28. Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. Kralovics, R., Sokol, L., Prchal, J.T. J. Clin. Invest. (1998) [Pubmed]
  29. Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. Triggs-Raine, B.L., Akerman, B.R., Clarke, J.T., Gravel, R.A. Am. J. Hum. Genet. (1991) [Pubmed]
  30. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Bleyl, S.B., Mumford, B.R., Thompson, V., Carey, J.C., Pysher, T.J., Chin, T.K., Ward, K. Am. J. Hum. Genet. (1997) [Pubmed]
  31. Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation. Kondo, S., Tokunaga, F., Kawano, S., Oono, Y., Kumagai, S., Koide, T. Blood (1999) [Pubmed]
  32. Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Batch, J.A., Williams, D.M., Davies, H.R., Brown, B.D., Evans, B.A., Hughes, I.A., Patterson, M.N. Hum. Mol. Genet. (1992) [Pubmed]
  33. Frequency of p53 mutations in breast carcinomas from Ashkenazi Jewish carriers of BRCA1 mutations. Phillips, K.A., Nichol, K., Ozcelik, H., Knight, J., Done, S.J., Goodwin, P.J., Andrulis, I.L. J. Natl. Cancer Inst. (1999) [Pubmed]
  34. Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). Lloyd, S.E., Pearce, S.H., Günther, W., Kawaguchi, H., Igarashi, T., Jentsch, T.J., Thakker, R.V. J. Clin. Invest. (1997) [Pubmed]
  35. Characterization of mutations in patients with multiple endocrine neoplasia type 1. Bassett, J.H., Forbes, S.A., Pannett, A.A., Lloyd, S.E., Christie, P.T., Wooding, C., Harding, B., Besser, G.M., Edwards, C.R., Monson, J.P., Sampson, J., Wass, J.A., Wheeler, M.H., Thakker, R.V. Am. J. Hum. Genet. (1998) [Pubmed]
  36. Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Mirzayans, F., Pearce, W.G., MacDonald, I.M., Walter, M.A. Am. J. Hum. Genet. (1995) [Pubmed]
  37. New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. Li, H., Chen, Q., Moss, A.J., Robinson, J., Goytia, V., Perry, J.C., Vincent, G.M., Priori, S.G., Lehmann, M.H., Denfield, S.W., Duff, D., Kaine, S., Shimizu, W., Schwartz, P.J., Wang, Q., Towbin, J.A. Circulation (1998) [Pubmed]
  38. Chronic lymphocytic leukemia cells with allelic deletions at 13q14 commonly have one intact RB1 gene: evidence for a role of an adjacent locus. Liu, Y., Szekely, L., Grandér, D., Söderhäll, S., Juliusson, G., Gahrton, G., Linder, S., Einhorn, S. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  39. Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? Serova, O.M., Mazoyer, S., Puget, N., Dubois, V., Tonin, P., Shugart, Y.Y., Goldgar, D., Narod, S.A., Lynch, H.T., Lenoir, G.M. Am. J. Hum. Genet. (1997) [Pubmed]
  40. p53 mutation is associated with progression in follicular lymphomas. Sander, C.A., Yano, T., Clark, H.M., Harris, C., Longo, D.L., Jaffe, E.S., Raffeld, M. Blood (1993) [Pubmed]
  41. Genomic organization of the SLC1A1/EAAC1 gene and mutation screening in early-onset obsessive-compulsive disorder. Veenstra-VanderWeele, J., Kim, S.J., Gonen, D., Hanna, G.L., Leventhal, B.L., Cook, E.H. Mol. Psychiatry (2001) [Pubmed]
  42. Analysis of the FHIT gene and its product in squamous cell carcinomas of the head and neck. Kisielewski, A.E., Xiao, G.H., Liu, S.C., Klein-Szanto, A.J., Novara, M., Sina, J., Bleicher, K., Yeung, R.S., Goodrow, T.L. Oncogene (1998) [Pubmed]
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