39 research outputs found

    New class development to cancel a life experience and the gap with the scientific definition

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    理科の授業では,物理量の定義を起点として学びの展開を構成する場合が多い(定義起点展開法)。一方,日常生活では,「目的地までの所用時間の短さ」と「速さ」を連動させて思考することが多い(生活起点展開法)。そのため,科学的定義に基づく扱いとのギャップに生徒が戸惑い,理科の学習内容を日常生活へ関連させて理解するときの障壁になっている可能性がある。中学校2・3年生679名を対象とした事前調査では,速さについて「生活起点」で考えている生徒が615名(90.6%),「定義起点展開法」で考えている生徒が51名(7.5%)であった。また,生徒の「速さ」の捉え方に対する回答反応時間の分析結果からも,「定義起点展開法」の正解者の反応時間の平均が22.0秒に比べ「生活起点展開法」の平均は18.4秒であり,「目的地までの所用時間の短さ」と「速さ」を連動して思考する「生活起点展開法」の考え方が多いと推測される

    Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis

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    Uniparental disomy (UPD) is defined as the presence of a chromosome pair that derives from only one parent in a diploid individual. The human TRKA gene on chromosome 1q21-q22 encodes a receptor tyrosine kinase for nerve growth factor and is responsible for an autosomal recessive genetic disorder: congenital insensitivity to pain with anhidrosis (CIPA). We report here the second case of paternal UPD for chromosome 1 in a male patient with CIPA who developed normally at term and did not show overt dysmorphisms or malformations. He had only the usual features of CIPA with a homozygous mutation at the TRKA locus and a normal karyotype with no visible deletions or evidence of monosomy 1. Haplotype analysis of the TRKA locus and allelotype analyses of whole chromosome 1 revealed that the chromosome pair was exclusively derived from his father. Non-maternity was excluded by analyses of autosomes other than chromosome 1. Thus, we have identified a complete paternal isodisomy for chromosome 1 as the cause of reduction to homozygosity of the TRKA gene mutation, leading to CIPA. Our findings further support the idea that there are no paternally imprinted genes on chromosome 1 with a major effect on phenotype. UPD must be considered as a rare but possible cause of autosomal recessive disorders when conducting genetic testing
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