Aim: The purpose of this study was to identify the competencies of genetic nursing practise required for general and genetic nurses. Methods: We conducted a four-stage survey using a Delphi process. We conducted an interview with 27 nurses who were involved in genetics-related care and extracted 89 items in seven categories. In the second survey, we mailed a questionnaire to 20 experts in genetics. In the third and fourth surveys, we asked 491 health-care providers, including nurses and physicians, who were involved in genetics-related care and agreed to participate in the study at 113 institutions in 40 prefectures. The respondents were asked to choose one of three options in each of 89 items: "A: General nurse's role", "B: Genetic nurse's role", and "C: Not appropriate as the nurse's role". The data were collected from August 2000 to March 2001. There were 295 final subjects, and the response rate was 60%. Results: The competencies required for general nurses were identified as "living support", "psychological support", and "identification of the client's wishes", while those required for genetic nurses were "provision and exchange of accurate genetic information", "referral to and collaboration with other organisations", and "client support to understand disease." Conclusions: These results suggest a direction for genetic nursing curricula. It is our challenge to incorporate genetics into the education programming.
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders. The prevalence of the ADPKD genotype in the Caucasian and Latin populations has been reported. Here, we used linkage analysis to demonstrate the prevalence of the genotype and the correlation between phenotypes and genotypes among 21 Japanese ADPKD families consisting of 96 individuals and including 57 affected members. Six polymorphic markers, each linked to either the polycystic kidney disease 1 (PKD1) or polycystic kidney disease 2 (PKD2) gene, were used for polymerase chain reaction analysis. Seventeen families (81%) showed linkage to PKD1, two families (10%) showed linkage to PKD2, and two families did not show linkage to either PKD1 or PKD2. One of the PKD1-linked families was indicated to have different mutations of PKD1 gene in the same family. PKD2-linked families did not have milder symptoms than PKD1-linked families.
More than 80 mutations of the PKD1 gene have been reported, mostly in patients from Western Europe. New techniques are being used to detect an increasing number of mutations, even in the homologous region of the PKD1 gene. Polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) or denaturing highperformance liquid chromatography (DHPLC) analyses were performed in the present study to screen mutations from exon 23 to exon 46 in the PKD1 gene and in the entire PKD2 gene. When an abnormal pattern was found in PCR-SSCP or DHPLC, the PCR products were directly sequenced. Four mutations were identified in the PKD1 gene: a missense mutation (C47413T causing T3509M in exon 35), a splicing mutation (del 20 bp in 75 bp of intron 43), and two nonsense mutations (C48566A causing C3693X in exon 38, and C51237T causing Q4124X in exon 45). The nonsense mutation Q4124X existed in only two of three affected sib members in family K68. The pattern of the restriction enzyme digest and the haplotype analysis confirmed the presence of a heterozygous mutation in the family. Fifteen single nucleotide polymorphisms were identified in this study. Two of them (C50439A and C51659T) can be used as intragenic polymorphic markers.
del Pacífico. *** Periodista y traductora. Coordinadora del programa "Explorando el patrimonio cultural de la humanidad. Paisaje agavero en la región de Tequila", nhk (televisión pública japonesa).
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