WordNet
- that which is inherited; a title or property or estate that passes by law to the heir on the death of the owner (同)heritage
- (genetics) attributes acquired via biological heredity from the parents (同)hereditary pattern
- any attribute or immaterial possession that is inherited from ancestors; "my only inheritance was my mothers blessing"; "the worlds heritage of knowledge" (同)heritage
- hereditary succession to a title or an office or property (同)heritage
- (of genes) producing its characteristic phenotype only when its allele is identical
- of or relating to an autosome; "autosomal gene"
PrepTutorEJDIC
- 〈U〉『相続』,継承 / 〈C〉『遺産』,相続財産 / 〈C〉(両親・前任者・前代などから)受け継いだもの
- 後退する,退行の / (遺伝が)劣性の / 劣性遺伝形質
UpToDate Contents
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- 1. メンデル遺伝の概要 overview of mendelian inheritance
- 2. 単一遺伝子性疾患の非メンデル遺伝のパターン non mendelian inheritance patterns of monogenic diseases
- 3. ホスホフルクトキナーゼ欠損症（糖原病VII型、垂井病） phosphofructokinase deficiency glycogen storage disease vii tarui disease
- 4. 先天性ミオパシー congenital myopathies
- 5. プリンヌクレオシドホスホリラーゼ欠損症 purine nucleoside phosphorylase deficiency
English Journal
- A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern.
- Wang J, Shen J, Guo L, Cheng C, Chai R, Shu Y, Li H.
- Hearing research. 2019 Aug;379()79-88.
- Myosin VI is an actin-associated molecular motor vital for auditory and vestibular function. It is encoded by MYO6 located on chromosome 6q13 in human. Pathogenic variants in MYO6 have been associated with both dominant and recessive forms of hearing loss. However, the molecular mechanisms remain un
- PMID 31103816
- Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.
- Ghesh L, Vincent M, Delemazure AS, Boyer J, Corre P, Perez F, Geneviève D, Laplanche JL, Collet C, Isidor B.
- American journal of medical genetics. Part A. 2019 Jul;179(7)1390-1394.
- Treacher Collins syndrome (TCS) is a frequent cause of mandibulofacial dysostosis. To date, TCS-causing mutations in three genes, namely TCOF1, POLR1D, and POLR1C have been identified. TCS is usually inherited in an autosomal dominant manner, with a high clinical variability and no phenotype-genotyp
- PMID 30957429
- A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.
- Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X, Ling J.
- Gene. 2019 Jul;704()113-120.
- Usher syndrome (USH) is a clinically common autosomal recessive disorder characterized by retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction. In this study, we identified a Hunan family of Chinese descent with two affected members clinically diagnosed wit
- PMID 30974196
Japanese Journal
- 家族性グルコーストランスポーター1欠損症症候群
- 伊藤 康,小国 弘量,大澤 眞木子,ITO Yasushi,OGUNI Hirokazu,OSAWA Makiko
- 東京女子医科大学雑誌 83(E1), E9-E13, 2013-01-31
- グルコーストランスポーター1欠損症症候群(Glucose transporter type 1 deficiency syndrome; GLUT-1 DS) は,脳のエネルギー代謝基質であるglucoseが中枢神経系に取り込まれないことにより生じる代謝性脳症である.GLUT-1DSでは,大多数にSLC2A1 遺伝子におけるヘテロ接合性のde novo変異を認め,ハプロ不全が発症に関与する.孤発症 …
- NAID 110009559421
- ATP7B遺伝子検査を施行したウイルソン病の1家系
- 巽 康彰,三浦 友里江,服部 亜衣 [他],林 久男,加藤 宏一,上山 純,涌澤 伸哉,林 和彦,片野 義明,後藤 秀実
- 肝臓 54(5), 334-339, 2013
- ウイルソン病は肝臓の銅輸送蛋白ATP7Bの機能欠損により銅の胆汁排泄が障害される遺伝性疾患である．銅過剰による肝臓障害が基礎病変で，長期経過中に多彩な肝外合併症を引き起こす．神経型ウイルソン病を持つ男性患者にATP7B遺伝子検査を施行して，病因変異の複合へテロ接合体保有を確認した．発端者の変異はヘテロ接合体を持つ両親由来であり，無症状の1名の妹は，発端者と同じく，両親由来変異の複合ヘテロ接合体を， …
- NAID 130003368685
Related Links
- Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the ...
- Patterns of inheritance Inheritance pattern Description Examples Autosomal dominant One mutated copy of the gene in each cell is sufficient for a person to be affected by an autosomal dominant disorder. In some ...
Related Pictures
★リンクテーブル★
| リンク元 | 「常染色体劣性遺伝」「autosomal recessive」「常染色体劣性遺伝形式」 |
| 関連記事 | 「inheritance」「recessive」「autosomal recessive」「autosomal」「recessive inheritance」 |
「常染色体劣性遺伝」
「autosomal recessive」
- 常染色体劣性遺伝の、常染色体劣性の
「常染色体劣性遺伝形式」
「inheritance」
- n.
「recessive」
- adj.
- 劣性の、劣性遺伝性の
「autosomal recessive」
- 常染色体劣性遺伝の、常染色体劣性の
「autosomal」
- adj.
- 常染色体性の、常染色体の