Approach to identification of a point mutation in apo B100 gene by means of a PCR-mediated site-directed mutagenesis

Schwartz, E.I.; Shevtsov, Sergey; Kuchinski, A. P.; Kovalev, Y. u. P.; Plutalov, O. V.; Berlin, Y. u. A.

doi:10.1093/nar/19.13.3752

Cited by 31 publications

(26 citation statements)

References 11 publications

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“…Table S2). If a given mutation had neither created nor destroyed a restriction site, PCR amplification was carried out by PCR-mediated site-directed mutagenesis that artificially introduced a new restriction enzyme cleavage site [Schwartz et al, 1991] (Supp. Table S2).…”

Section: Molecular Analysismentioning

confidence: 99%

“…The authors are also grateful to Matthew Mort for assistance with the SFRS1 (SF2/ASF) binding site analysis. Schwartz et al (1991). Note that PCR-RFLP analysis was not applicable for c.749dupA, c. 940C>T, c.1206dupT, c.1331dupG, c.1399delG, c.1519C>T, c.1959_1962delTAGT, c.1965delC, c.2550_2554delGAAAA, c.3443_3446delTTTG or c.3487_3490delACAG.…”

Section: Acknowledgmentsmentioning

confidence: 99%

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Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients

et al. 2009

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Section: Molecular Analysismentioning

confidence: 99%

Section: Acknowledgmentsmentioning

confidence: 99%

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients

et al. 2009

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“…If the mutation neither created nor destroyed a restriction site, the amplification was carried out using PCR-mediated site direct mutagenesis that introduced a new restriction cleavage site (Schwartz et al, 1991).…”

Section: Smpd1 Mutation Analysismentioning

confidence: 99%

Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, inSMPD1

et al. 2004

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; Web site: http://www.gaslini.org/labdppm.htm Communicated by Robert DesnickNiemann-Pick disease (NPD) results from the deficiency of lysosomal acid sphingomyelinase (SMPD1). To date, out of more than 70-disease associated alleles only a few of them have a significant frequency in various ethnic groups. In contrast, the remainder of the mutations are rare or private. In this paper we report the molecular characterization of an Italian series consisting of twenty-five NPD patients with the severe neurodegenerative A phenotype. Mutation detection identified a total of nineteen different mutations, including 14 novel mutations and five previously reported lesions. The known p.P189fs and the novel p.T542fs were the most frequent mutations accounting for 34% and 18% of the alleles, respectively. Screening the alleles for the three common polymorphisms revealed the variant c.1516G>A (exon 6) and the repeat in exon 1, but not the variant c.965C>T (exon 2). In absence of frequent mutations, the prognostic value of genotyping is limited. However, new genotype/phenotype correlations were observed for this disorder that could in the future facilitate genetic counseling and guide selection of patients for therapy.

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“…If the mutations neither created nor destroyed a restriction site, the amplification was carried out by PCR-mediated site direct mutagenesis that introduced a new cleavage site of restriction [Schwartz et al, 1991]. The possible polymorphic nature of the new mutations was excluded ascertaining that none of the 50 healthy control subjects carried any of these alterations.…”

Section: Mutations Analysismentioning

confidence: 99%

Molecular analysis ofARSAandPSAPgenes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novelARSAalleles

Grossi¹,

Regis²,

Rosano³

et al. 2008

Hum. Mutat.

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Approach to identification of a point mutation in apo B100 gene by means of a PCR-mediated site-directed mutagenesis

Cited by 31 publications

References 11 publications

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients

Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, inSMPD1

Molecular analysis ofARSAandPSAPgenes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novelARSAalleles

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