Single-strand conformational polymorphisms (SSCP): detection of useful polymorphisms at the dystrophin locus

Ziętkiewicz, Ewa; Sinnett, Daniel; Richer, Chantal; Mitchell, Grant A.; Vanasse, Michel; Labuda, Damian

doi:10.1007/bf00194322

Cited by 12 publications

(12 citation statements)

References 18 publications

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“…The typing of hMLH1 exon 8 polymorphism by SSCP analysis using previously published oligonucleotides (Han et al, 1995) was performed as described in Zietkiewicz et al (1992).…”

Section: Single-strand Conformational Polymorphism (Sscp) Analysismentioning

confidence: 99%

Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and hMSH3 in sporadic breast cancer

et al. 1999

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SummaryTo study the involvement of DNA mismatch-repair genes in sporadic breast cancer, matched normal and tumoral DNA samples of 22 patients were analysed for genetic instability and loss of heterozygosity (LOH) with 42 microsatellites at or linked to hMLH1 (3p21), hMSH2 (2p16), hMSH3 (5q11-q13), hMSH6 (2p16), hPMS1 (2q32) and hPMS2 (7p22) loci. Chromosomal regions 3p21 and 5q11-q13 were found hemizygously deleted in 46% and 23% of patients respectively. Half of the patients deleted at hMLH1 were also deleted at hMSH3. The shortest regions of overlapping (SRO) deletions were delimited by markers D3S1298 and D3S1266 at 3p21 and by D5S647 and D5S418 at 5q11-q13. Currently, the genes hMLH1 (3p21) and hMSH3 (5q11-q13) are the only known candidates located within these regions. The consequence of these allelic losses is still unclear because none of the breast cancers examined displayed microsatellite instability, a hallmark of mismatch-repair defect during replication error correction. We suggest that hMLH1 and hMSH3 could be involved in breast tumorigenesis through cellular functions other than replication error correction.

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“…The typing of hMLH1 exon 8 polymorphism by SSCP analysis using previously published oligonucleotides (Han et al, 1995) was performed as described in Zietkiewicz et al (1992).…”

Section: Single-strand Conformational Polymorphism (Sscp) Analysismentioning

confidence: 99%

Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and hMSH3 in sporadic breast cancer

et al. 1999

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“…We adopted a strategy using singlestrand conformational polymorphism (SSCP) analysis (12,13) to screen genomic DNA. SSCP analysis has been used to detect mutations in a number of genes (14)(15)(16).…”

Section: Introductionmentioning

confidence: 99%

Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity.

Pullinger¹,

Hennessy²,

Chatterton³

et al. 1995

J. Clin. Invest.

186

137

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Detection of new ligand-defective mutations of apolipoprotein B (apoB) will enable identification of sequences involved in binding to the LDL receptor. Genomic DNA from patients attending a lipid clinic was screened by singlestrand conformation polymorphism analysis for novel mutations in the putative LDL receptor-binding domain of apoB-100. A 46-yr-old woman of Celtic and Native American ancestry with primary hypercholesterolemia (total cholesterol [TC] 343 mg/dl; LDL cholesterol [LDL-C] 241 mg/ dl) and pronounced peripheral vascular disease was found to be heterozygous for a novel Arg3531-Cys mutation, caused by a C-T transition at nucleotide 10800. One unrelated 59-yr-old man of Italian ancestry was found with the same mutation after screening 1,560 individuals. He had coronary heart disease, a TC of 310 mg/dl, and an LDL-C of 212 mg/ dl. A total of eight individuals were found with the defect in the families of the two patients. They had an age-and sex-adjusted TC of 240±14 mg/dl and LDL-C of 169±+10 mg/dl. This compares with eight unaffected family members with age-and sex-adjusted TC of 185±12 mg/dl and LDL-C of 124±+12 mg/dl. In a dual-label fibroblast binding assay, LDL from the eight subjects with the mutation had an affinity for the LDL receptor that was 63% that of control LDL. LDL from eight unaffected family members had an affinity of 91%. By way of comparison, LDL from six patients heterozygous for the Arg3500-Gln mutation had an affinity of 36%. The percentage mass ratio of the defective Cys3531 LDL to normal LDL was 59:41, as determined using the mAb MB19 and dynamic laser light scattering. Thus, the defective LDL had accumulated in the plasma of these patients. Using this mass ratio, it was calculated that the defective Cys353, LDL particles bound with 27% of normal affinity.Deduced haplotypes using 10 apoB gene markers showed J. E. Chatterton's present address is

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“…This agrees well with our earlier esti mations. 0.05 and 0.08% [9] and with the val ues of 0.03-0.06% reported in another study [17] where the SSCP technique was employed (although in that study mostly autosomal loci were considered). On the other hand, the val ues reported elsewhere [18][19][20][21] were either bi ased by the applied technique or are difficult to compare because of the use of different es timators of per locus heterozygosity.…”

Section: Resultsmentioning

confidence: 99%

“…Four of them, in fragments spanning exons 17, 45 and 48, have been already described by us [9], Two other polymorphisms were due to an A-to-T trans version and a T-to-C transition at positions -67 and -72 upstream of exon 13, respectively (fig. la) and another polymorphism was due to a C-to-G transversion at position +53 down stream of exon 49 ( fig.…”

Section: Resultsmentioning

confidence: 99%

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Neutral Polymorphisms in the Deletion-Prone Regions of the Dystrophin Gene

Ziętkiewicz¹,

Akalin²,

Labuda³

1995

Hum Hered

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The single-strand conformational polymorphism technique was used to search for neutral polymorphisms in 18 PCR-amplified dystrophin gene fragments. Out of the seven polymorphisms (six intronic and one exonic) detected in Caucasians, one was absent from the Oriental population. Significant differences in allele frequencies between the two populations were observed for three of the intronic polymorphisms. In Caucasians, one variant position occurred per 728 bp of the total DNA or one per 483 bp of the intronic sequence; the corresponding average heterozygosities were 0.04 and 0.06%, respectively.

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Single-strand conformational polymorphisms (SSCP): detection of useful polymorphisms at the dystrophin locus

Cited by 12 publications

References 18 publications

Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and hMSH3 in sporadic breast cancer

Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and hMSH3 in sporadic breast cancer

Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity.

Neutral Polymorphisms in the Deletion-Prone Regions of the Dystrophin Gene

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