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Margaret Williams
Publications and source records attributed to Margaret Williams.
Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus.
We have developed quantitative comparative multiplex dosage analysis to detect altered copy number of regions of the phenylalanine hydroxylase gene. Out of 41 alleles (4% of 1,010 PKU chromosomes) on which a mutation had not been characterized previously, this technique has highlighted two novel mutations: deletions of exon 5 and of exon 6 on a total of eight alleles. Restriction-enzyme digestion of genomic DNA and hybridization to an amplified segment of the phenylalanine hydroxylase (PAH) cDNA probe PAH247 established the size of the deletion in five individuals to be between 700 and 900 bases. We also report somatic mosaicism in the parent of an affected child previously shown to have a deletion spanning exons 5 and 6. Finally, we report a putative duplication of a region encompassing exon 6 in an affected individual.
Alleles↗
The Call-Centre: a child welfare liaison program with immigrant serving agencies.
Alberta, Canada, welcomed nearly 16,000 landed immigrants in 2003, of whom more than half came to the Calgary area. Approximately 200,000 immigrants of various ethnic and cultural groups now live in the region. Many of these new arrivals have no natural support networks while struggling with language, cultural, and economic barriers. Recognizing these difficulties, the Calgary and Area Child and Family Services Authority (CFSA) joined with several Immigrant Serving Agencies to develop guidelines and procedures to direct staff working with diverse cultures, including the Call-Centre pilot project, which provided CFSA staff with a one-stop telephone contact for information about an immigrant or refugee family, their culture, and available culturally-appropriate resources. The Call-Centre, which is currently being evaluated by researchers at the University of Calgary, will gradually expand to all CFSA sites in the region. This article describes the Call-Centre and the first phase of the evaluation.
Alberta↗