関: hereditary disease、inborn genetic disease

WordNet

used of flowers having usually only one row or whorl of petals; "single chrysanthemums resemble daisies and may have more than one row of petals"
a base hit on which the batter stops safely at first base (同)bingle
not divided among or brought to bear on more than one object or objective; "judging a contest with a single eye"; "a single devotion to duty"; "undivided affection"; "gained their exclusive attention" (同)undivided, exclusive
existing alone or consisting of one entity or part or aspect or individual; "upon the hill stood a single tower"; "had but a single thought which was to escape"; "a single survivor"; "a single serving"; "a single lens"; "a single thickness"
having uniform application; "a single legal code for all"
hit a single; "the batter singled to left field"
desert (a cause, a country or an army), often in order to join the opposing cause, country, or army; "If soldiers deserted Hitlers army, they were shot" (同)desert
an imperfection in an object or machine; "a flaw caused the crystal to shatter"; "if there are any defects you should send it back to the manufacturer" (同)fault, flaw
an imperfection in a bodily system; "visual defects"; "this device permits detection of defects in the lungs"
a failing or deficiency; "that interpretation is an unfortunate defect of our lack of information" (同)shortcoming
to make melodious sounds; "The nightingale was singing"
deliver by singing; "Sing Christmas carols"
produce tones with the voice; "She was singing while she was cooking"; "My brother sings very well"
(genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity; "genes were formerly called factors" (同)cistron, factor
badminton played with one person on each side
tennis played with one person on each side

PrepTutorEJDIC

《名詞の前にのみ用いて》『たった一つ』(『一人』)『の』,単独の;《否定文で》ただ一つ(一人)(もない) / 《名詞の前にのみ用いて》『一人用の』・『独身の』・《名詞の前にのみ用いて》個々の,別々の / 単一の,単式の;(花が)一重咲きの,単弁の / 《英》(切符が)片道の / 〈C〉一人,1個;独身者 / 〈C〉《話》(ホテルの部屋,船室,列車寝台などの)一人用 / 〈C〉(野球で)シングルヒット,単打 / 《複数形で》(テニスなどの)シングルスの試合,単試合 / 《英》片道切符 / 《複数形で》《話》1ドル(ポンド)札 / …‘を'1人(1個)だけ選び出す《+『out』+『名,』+『名』+『out』》 / (野球で)シングルヒットを打つ
〈C〉『欠点』,弱点,欠陥 / 〈U〉〈C〉《古》不足,欠乏 / (国・党・主義などから)離脱する,裏切って出る《+『from』+『名』》;離反して(…に)転向する《+『to』+『名』》
『歌う』;(…に)歌って聞かせる《+『to』(『for』)+『名』》;(楽器に合わせて)歌う《+『to』+『名』》・〈小鳥・虫などが〉『鳴く』,さえずる / 《文》(…を)詩(歌)にする,(詩(歌)を詠んで)賛美する《+『of』+『名』》・〈小川・風・弾丸・湯沸かし・耳などが〉歌うように鳴る・《米語》自白する;密告する・〈歌〉‘を'歌う・《副詞[句]を伴って》歌って…‘を'(…に)する・…‘を'唱える,詠唱する・《文》…‘を'詩(歌)にする,(詩(歌)に詠んで)賛美する・合唱の集い
遺伝子

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1. 肥満の病因 pathogenesis of obesity
2. 肥大型心筋症：遺伝子変異および臨床遺伝子検査 hypertrophic cardiomyopathy gene mutations and clinical genetic testing
3. Isolated gonadotropin-releasing hormone deficiency (idiopathic hypogonadotropic hypogonadism)
4. 小児における、心房中隔欠損（ASD）の分類および孤立性ASDの臨床的特徴および診断 classification of atrial septal defects asds and clinical features and diagnosis of isolated asds in children
5. 大腸癌の分子遺伝学 molecular genetics of colorectal cancer

English Journal

MTHFR C677T and A1298C gene polymorphisms and their relation to homocysteine level in Egyptian children with congenital heart diseases.

Zidan HE, Rezk NA, Mohammed D.SourceMedical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt. Electronic address: haidy_menna@hotmail.com.
Gene.Gene.2013 Oct 15;529(1):119-24. doi: 10.1016/j.gene.2013.07.053. Epub 2013 Aug 8.
OBJECTIVE: To investigate the association of combined MTHFR C677T and A1298C gene polymorphisms with congenital heart diseases (CHD) in Egyptian children and their mothers and to determine their effect on homocysteine level in these children.MATERIAL AND METHODS: MTHFR C677T and A1298C polymorphisms
PMID 23933414

576kb deletion in 1p36.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy.

Zhu X, Zhang Y, Wang J, Yang JF, Yang YF, Tan ZP.SourceDepartment of Gynecology and Obstetrics, Xiangya Hospital of Central South University, China.
Gene.Gene.2013 Oct 10;528(2):352-5. doi: 10.1016/j.gene.2013.07.024. Epub 2013 Jul 25.
1p36 deletion (monosomy 1p36) is one of the most common terminal deletions observed in humans, characterized by special facial features, mental retardation, heart defects, development delay and epilepsy. Previously, we reported molecular findings in patients with limb, congenital heart disease (CHD)
PMID 23892090

A Novel Homozygous Mutation in G6PC3 Presenting as Cyclic Neutropenia and Severe Congenital Neutropenia in the Same Family.

Alangari AA, Alsultan A, Osman ME, Anazi S, Alkuraya FS.SourceDepartment of Pediatrics, College of Medicine, King Saud University, P.O. Box 2925, Riyadh, 11461, Saudi Arabia, aangari@ksu.edu.sa.
Journal of clinical immunology.J Clin Immunol.2013 Oct 9. [Epub ahead of print]
PURPOSE: Patients with autosomal recessive cyclic neutropenia have no known causative genetic defect yet.METHODS: Autozygosity mapping on two branches of an extended multiplex consanguineous family presenting with cyclic neutropenia or severe congenital neutropenia to look for candidate gene, follow
PMID 24105461

Japanese Journal

Complementation of a Defect in the Asparagine-Linked Glycosylation of a Mouse FM3A Mutant G258 Cell Line by Spheroplast Fusion of a Human Mega YAC Clone 923f5

MASUDA Takahisa,MORIYA Masayuki,KATAOKA Kensuke [他],NISHIKAWA Yoshihisa
Bioscience, biotechnology, and biochemistry 76(1), 108-114, 2012-01-23
… Mouse G258 mutant stopped both cell growth and the synthesis of lipid-linked oligosaccharide at the Man3GlcNAc2-P-P-Dolichol at a restricted temperature with a single gene mutation. … gene is localized in the region, the G258 mutant might have a defect in the mouse ALG11 … gene. …
NAID 10030398673

ｋｌｏｔｈｏマウスを用いた抗老化研究

萬谷博,萬谷(赤阪) 啓子,遠藤玉夫
YAKUGAKU ZASSHI 130(1), 3-9, 2010
… The klotho mouse shows multiple phenotypes resembling human aging caused by the mutation of a single gene. … This mutation is caused by the insertion of ectopic DNA into the regulatory region of the α-klotho gene. … The α-klotho gene encodes a type I membrane protein that is expressed predominantly in the kidney and brain. …
NAID 130000152003

Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia : Challenges in hemoglobin analysis and clinical diagnosis

Tan Jin Ai Mary Anne,Kok Juan Loong,Tan Kim Lian [他],WEE Yong Chui,GEORGE Elizabeth
Genes & genetic systems 84(1), 67-71, 2009-02-25
… The co-inheritance of β-thalassemia with α-thalassemia with a single gene deletion (-α/αα) is usually associated with thalassemia major. … In Southeast Asia, the most common defect responsible for α-thalassemia is the Southeast Asian (SEA) deletion of 20.5 kilobases. …
NAID 10024791438