Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs

Richards, Brenda; Skoletsky, Joel; Shuber, Anthony P.; Balfour, Rosemary; Stern, Robert C.; Dorkin, Henry L.; Parad, Richard B.; Witt, David R.; Klinger, Katherine W.

doi:10.1093/hmg/2.2.159

Cited by 366 publications

(233 citation statements)

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“…20 The six most informative families (A -F) were selected for a genome scan. Due to space constraints on acrylamide gels, some unaffected individuals were left out and the screening was performed on 34 affected and 26 unaffected subjects ( Figure 2).…”

Section: Methodsmentioning

confidence: 99%

Locus for susceptibility for familial capillary malformation (‘port-wine stain’) maps to 5q

et al. 2002

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Capillary malformation (CM; 'port-wine stain'), is a common vascular malformation affecting cutaneous capillary vessels in 0.3% of newborns. Increased incidence of lesions in first-degree relatives of these patients and several reported familial cases suggest that genetic factors may play a role in the pathogenesis of CM. We report the first genome-wide linkage analysis of familial CM. In the non-parametric linkage analysis, strong evidence of linkage (peak Z-score 6.72, P-value 0.000136) was obtained in an interval of 69 cM between markers D5S407 and D5S2098, corresponding to 5q11 -5q23. Parametric linkage analysis gave a maximum combined HLOD score of 4.84 (a-value 0.67) at marker D5S2044 on 5q15, and analysis using only the linked families, defined a smaller, statistically significant locus CMC1 of 23 cM (peak LOD score 7.22) between markers D5S1962 and D5S652 corresponding to 5q13 -5q15. Interesting candidate genes implicated in vascular and neural development, such as MEF2C, RASA1, and THBS4, are in this locus.

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Section: Methodsmentioning

confidence: 99%

Locus for susceptibility for familial capillary malformation (‘port-wine stain’) maps to 5q

et al. 2002

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“…APOE genotyping was performed using DNA extracted from buccal swabs using a modification of the method of Richards et al (24). Polymerase chain reaction amplification of a 234 base-pair fragment of exon 4 of the apoE gene followed by digestion with CfoI was used to determine APOE genotype.…”

Section: Apoe Genotypementioning

confidence: 99%

Apolipoprotein E ε4 and Later-Life Decline in Cognitive Function and Grip Strength

Batterham¹,

Bunce²,

Christensen³

2013

The American Journal of Geriatric Psychiatry

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Objectives: Presence of the apolipoprotein E (APOE) 4 allele is a risk factor for dementia, while the 2 allele offers protection against dementia. There is also evidence for a relationship between APOE genotype and changes in cognitive function. It is not clear however, whether this relationship stems from undetected disease in persons genetically more vulnerable to dementia. This study examined whether APOE genotype was associated with either initial performance or change in performance on a range of cognitive and noncognitive tasks, after accounting for possible preclinical dementia.Design: A population-based cohort was assessed up to four times over 12 years. Participants:The sample was an Australian cohort of 590 participants aged 70 and over who were genotyped for APOE.Measurements: The outcomes were processing speed, verbal fluency, episodic memory, word recognition, face recognition, grip strength and reaction time.Results: Adjusted latent growth models indicated that 4 carriers had significantly poorer initial memory performance and greater declines in processing speed and word recognition, compared to 2 and 3 carriers. In addition, 2 carriers exhibited significantly less decline in right grip strength than 3 carriers. However, after excluding 125 participants with low global cognition scores, all genotype effects became non-significant.Conclusions: Over a 12 year period, findings indicate that APOE 4-related cognitive decline in older community-dwelling populations is due to a higher likelihood of preclinical dementia among 4 carriers. When possible dementia cases are removed from the analyses, 4 associations with cognitive decline become statistically unreliable. APOE and cognitive decline in late life 3

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“…Genomic DNA was extracted from the peripheral blood leukocytes or buccal cells as previously described (QIAamp Blood Midi/Maxi kit (QIAGEN). [40][41][42] For longer-term storage, buccal DNA was subjected to phenolchloroform extraction and recovered by sodium acetate-ethanol precipitation, resuspended in H 2 O. PCR reactions were performed using 2 ml extracted product.…”

Section: Biological Sampling and Dna Extractionmentioning

confidence: 99%

Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community

et al. 2009

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Oculocutaneous albinism type 2 (OCA2) is a human autosomal-recessive hypopigmentation disorder associated with pathological mutations of the OCA2 gene. In this study, we investigated a form of OCA in a Polynesian population with an observed phenotype characterized by fair skin, some brown nevi present in the sun-exposed areas and green or blue eyes. Hair presented with a unique red coloration since birth, with tones ranging across individuals from Yellow-Red to Brown-Red, or Auburn. We genetically screened for mutations in the OCA2 and MC1R genes as their products have previously been shown to be associated with red hair/fair skin and OCA2. The SLC45A2 gene was also screened to identify any possible relation to skin color variation. We have identified a novel missense substitution in the OCA2 gene (Gly775Asp) responsible for OCA2 in individuals of Polynesian heritage from Tuvalu. The estimated incidence of this form of OCA2 in the primary study community is believed to occur at one of the highest recorded rates of albinism at approximately 1 per 669 individuals. In addition, we have analyzed four unrelated individuals with albinism who have Polynesian heritage from three other separate communities and found they carry the same OCA2 mutation. We also analyzed an out-group comprising three unrelated individuals with albinism of Melanesian ancestries from two separate communities, one Australian Aboriginal and three Australian Caucasians, and did not detect this mutation. We hypothesize that this mutation may be Polynesian specific and that it originated from a common founder.

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Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs

Cited by 366 publications

References 0 publications

Locus for susceptibility for familial capillary malformation (‘port-wine stain’) maps to 5q

Locus for susceptibility for familial capillary malformation (‘port-wine stain’) maps to 5q

Apolipoprotein E ε4 and Later-Life Decline in Cognitive Function and Grip Strength

Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community

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