Detecting single base substitutions as heteroduplex polymorphisms

White, Marga B.; Carvalho, Maria da Glória da Costa; Derse, David; O’Brien, Stephen J.; Dean, Michael

doi:10.1016/0888-7543(92)90377-5

Cited by 342 publications

(150 citation statements)

References 17 publications

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“…In any case, we think that the sequencing of the entire sequence of the MEN 1 gene Genetic and clinical analysis in MEN 1 patients t as a screening method allows the mutations responsible for the disease to be characterised at a higher percentage than using other techniques such as the SSCP. 16 In fact, SSCP does not detect all sequence changes, because the ability of each mutation to alter the conformation of the single strand depends on whether it occurs in a loop or in a long stable stem of the secondary structure, 17 or on the size of the segment analysed. 18 In summary, we have found germline mutations in nine out of 10 patients with suspect MEN 1, supporting the theory that the MEN 1 gene is responsible for this disease.…”

Section: Discussionmentioning

confidence: 99%

Genetic and clinical analysis in 10 Spanish patients with multiple endocrine neoplasia type 1

et al. 1999

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Multiple endocrine neoplasia type 1 (MEN 1) is characterised by the combination of tumours of the parathyroid, endocrine pancreas and anterior pituitary glands. In 1988 the MEN 1 gene was mapped to chromosome 11q13 and it was cloned in 1997. This gene contains 10 exons and extends across 9 Kb of genomic DNA; it encodes for a product of 610 amino acid named menin whose function is unknown. We have studied 10 unrelated MEN 1 kindreds by a complete sequencing analysis of the entire gene; mutations were identified in nine of them: five deletions, one insertion, two nonsense mutation and a complex alteration consisting of a deletion and an insertion that can be explained by a hairpin loop model. Two of the mutations have been previously described; the other seven were novel, and they were scattered throughout the coding sequence of the gene. As in previous series, no correlation was found between phenotype and genotype.

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Section: Discussionmentioning

confidence: 99%

Genetic and clinical analysis in 10 Spanish patients with multiple endocrine neoplasia type 1

et al. 1999

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“…SSCA (Orita et al, 1989;Glavac and Dean, 1993) and HA (Glavac and Dean, 1995) are mutation detection techniques that rely on detecting changes in the physical properties of DNA caused by the presence of sequence changes. These methods have shown an efficiency of 7-27% depending on the conditions and exons analysed (Soto and Sukumar, 1992;White et al, 1992;Kneppers et al, 1995;Eranslan et al, 1999). Prior et al (1995) screened around 80% of the dystrophin coding sequences for small mutations by using HA in 158 patients and identified mutations in 29 of them.…”

Section: Discussionmentioning

confidence: 99%

Point mutation and polymorphism in Duchenne/Becker Muscular Dystrophy (D/BMD) patients

Chaturvedi

Mukherjee²,

Srivastava³

et al. 2001

Exp Mol Med

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“…However, regular polyacrylamide gel electrophoresis was not successful [Bhattacharyya and Lilley, 1989]. More recently, heteroduplexes containing a single-base mismatch within the looped portion of a hairpin structure were observed to have a different migration as compared to homoduplexes of the same DNA molecule [White et al, 1992). A proprietary gel matrix has been commercially available that recognizes the presence of single-base differences in DNA heteroduplex molecules by altered electrophoretic migration (MDE Gel matrix, FMC Bioproducts, Rockland, ME) [Keen et al, 1991;Perry and Carrell, 1992;Soto and Sukumar, 1992].…”

Section: Introductionmentioning

confidence: 99%