Direct PCR from CVS and blood lysates for detection of cystic fibrosis and Duchenne muscular dystrophy deletions

Balnaves, M. E.; Nasioulas, Steven; Dahl, Henrik; Forrest, Susan M.

doi:10.1093/nar/19.5.1155

Cited by 35 publications

(13 citation statements)

References 4 publications

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“…MHC class II genes were PCR amplified from proteinase K digested blood lysates [21]. Using protocols from the Eleventh International Histocompatibility Workshop [22] DRBI*04 and DQB1 alleles were PCR amplified, the product dot blotted onto Hybond-N+ nylon membranes and hybridized [20] with DRB1*04 and DQB1 SSOs which had been labelled with [0~-32P] dCTP using terminal deoxynucleotide transferase.…”

Section: Typing Of Mitc Class H Locimentioning

confidence: 99%

A gene in the HLA class I region contributes to susceptibility to IDDM in the Finnish population

et al. 1994

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SummaryIn Finland the haplotype A2, Cwl, B56, DR4, DQ8 is the third most common haplotype in insulin-dependent diabetic (IDDM) patients and has the highest haplotype-specific absolute risk for IDDM. Cwl, B56, DR4, DQ8 haplotypes containing HLA-A alleles other than A2 are infrequent in the population and are not associated with IDDM. Comparison of the A2 and non-A2 haplotypes at the DNA level showed that they were identical at HLA-B, -DR, and -DQ loci. Evidence that class I alleles confer susceptibility to IDDM was obtained from the two HLA-C, -B, -DR and -DQ haplotypes most frequently found in IDDM patients in Finland. A24, A3 and A2 on the Cw3, B62, DR4, DQ8 haplotype, and A28, A2 and A1 on the Cw7, B8, DR3, DQ2 were all found to be associated with IDDM. In Finland these seven haplotypes, including A2, Cwl, B56, DR4, DQ8, account for 33 % of diabetic haplotypes and 10.3 % of non-diabetic haplotypes (p < 0.00001). The contribution of the class I region to IDDM susceptibility was also apparent in those IDDM patients lacking the disease-predisposing class II alleles. Significantly more non-DR3/non-DR4 IDDM patients (47 of 55) possessed two of the IDDM-associated HLA-A alleles compared to non-DR3/non-DR4 control subjects (40 of 58; p = 0.038). Moreover, IDDM patients confirmed by oligotyping as unable to form a 'diabetes-susceptibility' DQ heterodimer, tended to possess two diabetes-associated HLA-A alleles (12 of 13) compared to control subjects (12 of 20; p = 0.056). [Diabetologia (1994) Insulin-dependent diabetes mellitus (IDDM) is caused by an autoimmune destruction of the insulinproducing beta cells of the pancreas, the aetiology of which remains uncertain. Although a strong association exists between IDDM and markers in the HLA-DQ region of the major histocompatibility complex, HLA associations with IDDM were first described for the class I alleles HLA-B8, B18 and B15 (of which B62 is the major subtype) [1]. The higher relative risks of IDDM associated with DR3 compared to B8, and DR4 compared to B62, have been used as evidence to support the hypothesis that the primary susceptibility to IDDM exists in the class II region [2]. Highly poly-

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Section: Typing Of Mitc Class H Locimentioning

confidence: 99%

A gene in the HLA class I region contributes to susceptibility to IDDM in the Finnish population

et al. 1994

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“…DNA was extracted from blood (23), and a 241-bp region from the polymorphic second exon of the DQB1 gene was amplified in two separate PCRs, specific for DQwI and DQw2,3,4 alleles. Seven DQwI and six DQw2,3,4 alleles can be identified after restriction against panels of seven and five restriction enzymes, respectively (22,24).…”

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Concordance for Type 1 Diabetes in Identical Twins Is Affected by Insulin Genotype

et al. 2001

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OBJECTIVE -Monozygotic twins are usually discordant (only one twin affected) for type 1 diabetes. Discordance for disease between such twins implies a role for nongenetically determined factors but could also be influenced by a decreased load of diabetes susceptibility genes. The aim of this study was to determine whether two susceptibility genes were less prevalent in discordant twins compared with concordant twins.RESEARCH DESIGN AND METHODS -We studied 77 monozygotic twin pairs (INS), 40 concordant and 37 discordant, for type 1 diabetes at polymorphism of the insulin gene region on chromosome 11p and HLA-DQBI.RESULTS -The disease-associated INS genotype (Hph I) was identified in 87.5% of the concordant twins but only in 59.5% (P ϭ 0.005) of the discordant twins. Neither DQB1*0201 nor DQB1*0302 was seen in 2 of 40 (5%) concordant twins compared with 8 of 37 (22%) discordant twins (P ϭ 0.04). No statistical differences were seen between concordant and discordant twins at individual alleles of DQB1. Combining insulin and DQ data, 5% of concordant twins compared with 32.4% of discordant twins had neither DQB1*0201/DQB1*0302 nor the high-risk Hph I INS "ϩϩ" genotype (P ϭ 0.002).CONCLUSIONS -We conclude that the possession of the high-risk Hph I insulin genotype increases the likelihood of identical twins being concordant for type 1 diabetes and that the "load" of both major histocompatibility complex (MHC) and non-MHC susceptibility genes has an impact on the disease penetrance of type 1 diabetes.

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“…INS was studied at the 1,127 Pst i polymorphic restriction site in the 3' untranslated region of the insulin gene and at the 5'-23 Hph 1 polymorphic restriction site. DNA was extracted from blood by a rapid sucrose lysis-proteinase K digestion method [40]. PCR amplification was performed in 25-~1 volumes containing 1 ~tl (-50 ng) DNA lysate, 1.5 mmol/l MgC12, 200 ~tmol/1 of each dNTP, 50 mmol/1 KC1, 10 mmol/1 …”

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confidence: 99%

In Finland insulin gene region encoded susceptibility to IDDM exerts maximum effect when there is low HLA-DR associated risk

et al. 1995

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SummaryAn association between insulin-dependent diabetes mellitus (IDDM) and polymorphisms of the insulin gene on chromosome 11p15 (INS) is a consistent finding in Europid populations. While one study suggested that the INS association is restricted to HLA-DR4-positive individuals, studies in other Europid populations have shown the disease-associated INS genotype to confer susceptibility independently of HLA-DR. We have investigated the role of INS in susceptibility to IDDM in Finland, which has the highest incidence of diabetes mellitus in the world, at two polymorphic restriction sites, 5' and 3' to the insulin gene. From the DiMe (Childhood Diabetes in Finland) Study we studied 154 diabetic children without regard to HLA-DR type; 108 DR4 positive/non-DR3 diabetic children; 39 DR3 positive/ non-DR4 diabetic children; 30 DR4/DR3 positive diabetic children; 31 non-DR4/non-DR3 diabetic children; 96 matched DiMe control subjects and 86 other healthy, non-diabetic Finnish control subjects. We found an overall association between IDDM and INS in the high-risk Finnish population only with the 5' polymorphism and identified an INS haplotype negatively associated with IDDM in Finland. However, among diabetic subjects with a reduced HLAassociated susceptibility (non-DR4/non-DR3) both 3' and 5' INS loci showed an association with IDDM (p values 0.02 and 0.0002, respectively). Thus, in the Finnish population insulin gene-encoded susceptibility to IDDM exerts a maximum effect in those with reduced HLA-associated risk. [Diabetologia (1995[Diabetologia ( ) 38: 1223[Diabetologia ( -1229

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Direct PCR from CVS and blood lysates for detection of cystic fibrosis and Duchenne muscular dystrophy deletions

Abstract: This paper was inadvertantly published with a figure not intended for publication. The correct figure indicating results following screening for AF808 in cystic fibrosis is reproduced below.

Cited by 35 publications

References 4 publications

A gene in the HLA class I region contributes to susceptibility to IDDM in the Finnish population

A gene in the HLA class I region contributes to susceptibility to IDDM in the Finnish population

Concordance for Type 1 Diabetes in Identical Twins Is Affected by Insulin Genotype

In Finland insulin gene region encoded susceptibility to IDDM exerts maximum effect when there is low HLA-DR associated risk

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