【佳學(xué)基因檢測(cè)】神經(jīng)科基因基因測(cè)試項(xiàng)目招標(biāo)問(wèn)題中關(guān)CHRNA1問(wèn)題的答案

基因檢測(cè)的序列名稱：

CHRNA1

人體基因序列變化與疾病表征數(shù)據(jù)庫(kù)中的基因代碼：

1134

人體基因序列數(shù)據(jù)庫(kù)中國(guó)際交流名稱全稱

cholinergic receptor nicotinic alpha 1 subunit

中國(guó)數(shù)據(jù)庫(kù)中基因全稱：

膽堿能受體煙堿α1亞基

基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介

The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]

基因突變所影響的基因信息

肌肉乙酰膽堿受體由4種不同類型的5個(gè)亞基組成：2個(gè)α亞基和1個(gè)β，γ和δ亞基。該基因編碼一個(gè)在乙酰膽堿結(jié)合/通道門(mén)控中起作用的α亞基。已經(jīng)鑒定出編碼不同同工型的可替代剪接的轉(zhuǎn)錄變體。[由RefSeq提供，2012年11月]

國(guó)際國(guó)內(nèi)該堿基基因序列的其他英語(yǔ)文字母簡(jiǎn)稱：

ACHRA, ACHRD, CHRNA, CMS1A, CMS1B, CMS2A, FCCMS, SCCMS

基因解碼對(duì)該基因序列在細(xì)胞核中的染色體所給予的編號(hào)：

該基因序列位于人類第2號(hào)染色體上。

基因解碼對(duì)基因序列的正確定位

該基因序列在GRCh37版本中的起始位置坐標(biāo)為：175612320；結(jié)束位置坐標(biāo)為：175629200。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：174747592；結(jié)束位置坐標(biāo)為：174764472。正確的基因信息定位是基因檢測(cè)和對(duì)檢測(cè)結(jié)果進(jìn)行正確解讀的關(guān)鍵。

佳學(xué)基因解碼對(duì)該基因的功能分類：國(guó)際版

Transporters/Transporter channels and pores

基因解碼對(duì)該基因的功能分類：中文版

轉(zhuǎn)運(yùn)體/轉(zhuǎn)運(yùn)體通道和孔

結(jié)構(gòu)與功能基因解碼所揭示的該基因在細(xì)胞內(nèi)發(fā)揮作用的場(chǎng)所（國(guó)際版）：

Plasma membrane

結(jié)構(gòu)與功能基因解碼所揭示的該基因發(fā)揮作用的細(xì)胞內(nèi)位置（中文版）：

質(zhì)膜

該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國(guó)際版）：

Intermittent episodes of respiratory insufficiency due to muscle weakness; MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; Prolonged miniature endplate currents (MEPC); Abnormal cervical curvature; Aplasia of muscle; Decreased miniature endplate potentials (MEPP); Hypoplastic heart; Myasthenic Syndrome, Congenital, Fast-Channel; Decreased size of nerve terminals; Multiple pterygia; Myasthenic syndrome, congenital, postsynaptic slow-channel; MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; Myasthenias; Type 2 fiber atrophy; Malignant hyperpyrexia due to anesthesia; Congenital Myasthenic Syndromes, Postsynaptic; Early severe fetal akinesia sequence; Ophthalmoparesis; Pena-Shokeir syndrome type I; Akinesia; Neck muscle weakness; Weak cry; Easy fatigability; Hypoplastic finger; Short finger; Tires quickly; Bulbar palsy; Bulbar weakness; Poor suck; Increased susceptibility to fractures; Lymphangioma, Cystic; Thin rib; Gowers sign; Gowers sign present; Fused vertebrae; Spinal fusion; Vertebral body fusion; Respiratory insufficiency due to muscle weakness; Fibrosis; Congenital hypoplasia of lung; Distortion of face; Dysmorphic facies; Funny looking face; facial deformity; Depressed nasal ridge; Arthrogryposis; Generalized muscle weakness; Bell Palsy; Congenital anomaly of face; Facial muscle weakness of muscles innervated by CN VII; Facial Paresis; Neonatal Hypotonia; Edema; Polyhydramnios; Large auricle; Large dysplastic ears; Large pinnae; Large prominent ears; Large protruding ears; Large, floppy ears; Macrotia; Contracture of joint; Flexion contracture; Flexion contractures of joints; Contracture; Ophthalmoplegia; Feeding difficulties; Deglutition Disorders; Motor delay; No development of motor milestones; Highly variable severity; Variable expressivity; Uranostaphyloschisis; Infant, Small for Gestational Age; Intrauterine retardation; Congenital Epicanthus; Low set ears; Fetal Growth Retardation; Dysarthria; Byzanthine arch palate; Cleft Palate; Blepharoptosis; Infantile onset; Orbital separation excessive; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Acquired scoliosis; Curvature of spine; Autosomal recessive predisposition

如果該基因突變后，風(fēng)險(xiǎn)可能增加的疾病類型（中文版）：

由于肌肉無(wú)力導(dǎo)致間歇性呼吸功能不全;肌無(wú)力綜合癥先天性1A慢通道；肌無(wú)力綜合癥先天性1B快速通道；延長(zhǎng)的微型終板電流 (MEPC)；頸椎曲度異常；肌肉發(fā)育不全；微型終板電位 (MEPP) 降低；心臟發(fā)育不全；肌無(wú)力綜合癥先天性快速通道；神經(jīng)末梢縮小；多發(fā)性翼狀胬肉；肌無(wú)力綜合征先天性突觸后慢通道；多發(fā)性翼狀胬肉綜合征致死型；肌無(wú)力; 2型纖維萎縮；麻醉引起的惡性高熱；先天性肌無(wú)力綜合征突觸后；早期嚴(yán)重胎兒運(yùn)動(dòng)不能序列；眼癱; Pena-Shokeir 綜合征 I 型；運(yùn)動(dòng)不能；頸部肌肉無(wú)力；微弱的哭聲；容易疲勞；手指發(fā)育不全；手指短；輪胎很快;延髓麻痹；延髓無(wú)力；吸力差；骨折易感性增加；淋巴管瘤囊性；細(xì)肋;高爾斯標(biāo)志； Gowers 簽名禮物；融合椎骨;脊柱融合；椎體融合；肌肉無(wú)力導(dǎo)致的呼吸功能不全；纖維化；先天性肺發(fā)育不全；面部扭曲；畸形面容；滑稽的臉；面部畸形；鼻梁凹陷；關(guān)節(jié)攣縮癥；全身性肌肉無(wú)力；貝爾麻痹；面部先天性異常； CN VII 支配的肌肉的面部肌肉無(wú)力；面部麻痹；新生兒肌張力減退；浮腫;羊水過(guò)多;大耳廓；發(fā)育不良的大耳朵；大耳廓；大而突出的耳朵；大而突出的耳朵；大而松軟的耳朵； Macrotia;關(guān)節(jié)攣縮；屈曲攣縮；關(guān)節(jié)屈曲攣縮；攣縮;眼肌麻痹;進(jìn)食困難；吞咽障礙；電機(jī)延遲；沒(méi)有運(yùn)動(dòng)里程碑的發(fā)展；高度可變的嚴(yán)重性；可變表現(xiàn)力； Uranostaphyloschisis;嬰兒小于胎齡兒；宮內(nèi)發(fā)育遲緩;先天性內(nèi)眥贅皮；低位耳朵；胎兒生長(zhǎng)遲緩；構(gòu)音障礙；拜占庭拱形上顎；腭裂；上瞼下垂；嬰兒期發(fā)病；軌道分離過(guò)度；發(fā)育不全的下頜骨髁；下頜發(fā)育不全;小頜畸形；后天性脊柱側(cè)凸；脊柱彎曲；常染色體隱性易感性

GWAS基因檢測(cè)所建立的與該基因的疾病關(guān)聯(lián)（國(guó)際版）：

正在通過(guò)基因解碼技術(shù)進(jìn)行收集、查證并編輯，請(qǐng)關(guān)注佳學(xué)基因，獲得及時(shí)更新的人類基因序列變化與疾病表征數(shù)據(jù)庫(kù)的更新內(nèi)容

GWAS基因檢測(cè)所解碼的該基因突變會(huì)增加風(fēng)險(xiǎn)的疾病種類（中文版）：

正在通過(guò)基因解碼技術(shù)進(jìn)行收集、查證并編輯，請(qǐng)關(guān)注佳學(xué)基因，獲得及時(shí)更新的人類基因序列變化與疾病表征數(shù)據(jù)庫(kù)的更新內(nèi)容

以該基因做靶點(diǎn)的藥物（國(guó)際版）：

Galantamine (Ion channel activity);Agmatine (Ion channel activity)

針對(duì)該基因所產(chǎn)生的突變，可能有正確效果的藥物（中文版）：

加蘭他敏（離子通道活性）；胍丁胺（離子通道活性）