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What is Variation?01:14

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In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
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Variation01:19

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An important characteristic of any set of data is the variation in the data. In some data sets, the data values are concentrated closely near the mean; in other data sets, the data values are more widely spread out from the mean. The most common measure of variation, or spread, is the standard deviation, which is the square root of variance.
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The Nursing Code of Ethics sets the ethical benchmark for the profession, and guides nurses in ethical analysis and decision making at the societal, organizational, and clinical levels. The code encompasses showing compassion and respect for the patient, their families, and communities in all circumstances while committing to providing patient-centered care. In addition, the code states that nurses must advocate for the patient by defending a cause or recommendation to protect their rights,...
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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
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発育障害に対するリセシブ・コーディング・バリエーションの寄与を定量化

Hilary C Martin1, Wendy D Jones2,3, Rebecca McIntyre2

  • 1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK. hcm@sanger.ac.uk jeff.barrett@genomicsplc.com.

Science (New York, N.Y.)
|November 10, 2018
PubMed
まとめ

リセシブ・コーディング・バリエーションは,ほとんどの家族で発達障害に最小限に寄与しますが,同族集団では顕著です. KDM5B と EIF3F のような新しい遺伝子が特定され,さらなる遺伝子研究が必要であることを強調しました.

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科学分野:

  • 遺伝学
  • ゲノミクス
  • 発達生物学

背景:

  • 遺伝的変異は遺伝性疾患に 影響を及ぼします
  • 異なるタイプの遺伝子変異の貢献を理解することは 発達障害の診断に不可欠です

研究 の 目的:

  • 発育障害に対するリセシブ・コーディング・バリエーションのゲノム全体の貢献を推定する.
  • 再発性発達障害に関連する新しい遺伝子を特定する.

主な方法:

  • 発達障害解読研究における6040の家族からの全ゲノムデータを分析した.
  • マウスと細胞モデルを用いた候補遺伝子の識別と機能的検証.

主要な成果:

  • リセシブ・コーディング・バリエーションは,ヨーロッパ系患者の3. 6%を占め,デノボ変異の50%を占めた.
  • パキスタン出身の患者では,自閉性の高さによる後退型変異が31%を説明した.
  • 2つの新しい遺伝子であるKDM5BとEIF3Fが特定され,機能的に検証されました.

結論:

  • リセシブ・コーディング・バリエーションは,未診断の非血縁の個体における遺伝的原因のわずかな部分を表します.
  • 非コーディング変種,不完全な浸透性,多遺伝子メカニズムに関するさらなる研究が必要である.
  • この研究では,後退性発達障害の新たな遺伝的要因が特定されました.