【佳學(xué)基因檢測(cè)】高密度芯片基因檢測(cè)ACTA1有突變，結(jié)果正確嗎？

基因檢測(cè)的序列名稱：

ACTA1

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：

58

人體基因序列數(shù)據(jù)庫(kù)中國(guó)際交流名稱全稱

actin alpha 1, skeletal muscle

中國(guó)數(shù)據(jù)庫(kù)中基因全稱：肌動(dòng)蛋白α1，骨骼肌基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介

The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008]

基因突變所影響的基因信息

該基因編碼的產(chǎn)物屬于肌動(dòng)蛋白家族，是高度保守的蛋白，在細(xì)胞運(yùn)動(dòng)，結(jié)構(gòu)和完整性中起作用。已經(jīng)鑒定出α，β和γ肌動(dòng)蛋白同工型，其中α肌動(dòng)蛋白是收縮裝置的主要成分，而β和γ肌動(dòng)蛋白參與細(xì)胞運(yùn)動(dòng)的調(diào)節(jié)。該肌動(dòng)蛋白是在骨骼肌中發(fā)現(xiàn)的一種α肌動(dòng)蛋白。該基因的突變會(huì)導(dǎo)致3型腎病性肌病，先天性肌病伴有過(guò)多的細(xì)絲狀肌纖維，先天性肌病伴有核心，先天性肌病伴有纖維類型的失調(diào)，這些疾病會(huì)導(dǎo)致肌肉纖維缺陷。[由RefSeq提供，2008年7月]

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

ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3, SHPM

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1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：229566992；結(jié)束位置坐標(biāo)為：229569858。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：229431245；結(jié)束位置坐標(biāo)為：229434096。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

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基因解碼對(duì)該基因的功能分類：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，獲得及明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

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）：

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，獲得及明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

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）：

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，獲得及明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

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

Actin-Accumulation Myopathy; MYOPATHY, SCAPULOHUMEROPERONEAL; Nemaline myopathy 3; Zebra body myopathy; Autophagic vaculoes (finding); Handgrip myotonia; Late-onset distal muscle weakness; Eichsfeld type congenital muscular dystrophy; Type 1 fibers relatively smaller than type 2 fibers; Axial muscle weakness; Muscle fiber necrosis; Myofibrillar Myopathy; Neck flexor weakness; Nemaline Myopathy, Childhood Onset; Congenital Fiber Type Disproportion; Muscle fiber splitting; Muscular Dystrophies, Limb-Girdle; Nemaline rods; Centrally nucleated skeletal muscle fibers; Type 1 muscle fiber predominance; Difficulty walking up stairs; Frequent falls; Myopathic facies; Spinal rigidity; Slender build; Rimmed vacuoles on biopsy; EMG: neuropathic changes; Cervical Dystonia; Neck muscle weakness; Spasmodic torticollis; Weak cry; Torticollis; Bulbar palsy; Bulbar weakness; Mildly increased creatine kinase; Muscle weakness of limb; EMG: myopathic abnormalities; Gowers sign; Gowers sign present; Mask-like facies; Waddling gait; Lumbar lordosis; Respiratory insufficiency due to muscle weakness; Decreased to absent deep tendon reflexes; Proximal muscle weakness; Proximal neurogenic muscle weakness; Arthrogryposis; Narrow face; Thin face; Lordosis; Reduced fetal movement; Retrognathia; Left Ventricular Hypertrophy; Generalized muscle weakness; Bell Palsy; Facial muscle weakness of muscles innervated by CN VII; Facial Paresis; Distal limb muscle weakness due to peripheral neuropathy; Distal muscle weakness; Neonatal Hypotonia; Long face; Cardiomyopathy, Dilated; Polyhydramnios; Congenital pes cavus; Absent reflex; Absent tendon reflex; Reflex, Deep Tendon, Absent; Pectus excavatum; Myopathy; Creatine phosphokinase serum increased; Elevated creatine kinase; Decreased tendon reflex; Feeding difficulties; Respiratory function loss; Deglutition Disorders; Prenatal onset; Respiratory Insufficiency; Recurrent respiratory infections; Motor delay; No development of motor milestones; Highly variable clinical phenotype; Highly variable phenotype and severity; Highly variable phenotype, even within families; Phenotypic variability; Highly variable severity; Variable expressivity; Feeding difficulties in infancy; Byzanthine arch palate; Blepharoptosis; Acquired scoliosis; Curvature of spine; Failure to gain weight; Pediatric failure to thrive; Muscle hypotonia; Cognitive delay; Global developmental delay; Mental and motor retardation; 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）：

肌動(dòng)蛋白蓄積性肌?。患〔〖珉喂请殴?；神經(jīng)性肌病 2型；斑馬體肌??；自噬泡（發(fā)現(xiàn)）；手握肌強(qiáng)直；遲發(fā)性遠(yuǎn)端肌肉無(wú)力； Eichsfeld 型先天性肌營(yíng)養(yǎng)不良癥；類型 1 纖維相對(duì)小于類型 2 纖維；軸向肌肉無(wú)力；肌纖維壞死；肌原纖維肌病;頸屈肌無(wú)力； Nemaline 肌病兒童期發(fā)??；先天性纖維類型失調(diào)；肌纖維分裂；肌肉萎縮癥肢帶；線粒體;中央成核骨骼肌纖維； 1 型肌纖維優(yōu)勢(shì);上樓梯困難；經(jīng)常跌倒；肌病面容；脊柱僵硬；身材苗條；活檢有邊緣空泡；肌電圖：神經(jīng)性改變；頸肌張力障礙；頸部肌肉無(wú)力；痙攣性斜頸;微弱的哭聲；斜頸;延髓麻痹；延髓無(wú)力；肌酸激酶輕度升高；四肢肌肉無(wú)力；肌電圖：肌病異常；高爾斯標(biāo)志； Gowers 簽名禮物；面具般的面容；搖搖晃晃的步態(tài)；腰椎前凸；肌肉無(wú)力導(dǎo)致的呼吸功能不全；深腱反射減弱至消失；近端肌肉無(wú)力；近端神經(jīng)源性肌肉無(wú)力；關(guān)節(jié)攣縮癥；窄臉；瘦臉;前凸;胎動(dòng)減少；后頜畸形；左心室肥大；全身性肌肉無(wú)力；貝爾麻痹； CN VII 支配的肌肉的面部肌肉無(wú)力；面部麻痹；周圍神經(jīng)病變引起的遠(yuǎn)端肢體肌肉無(wú)力；遠(yuǎn)端肌肉無(wú)力；新生兒肌張力減退；拉長(zhǎng)著臉;心肌病擴(kuò)張型；羊水過(guò)多;先天性高弓足；沒(méi)有反射；腱反射消失；反射深肌腱缺席；漏斗胸;肌病;血清肌酸磷酸激酶升高；肌酸激酶升高；肌腱反射減弱；進(jìn)食困難；呼吸功能喪失；吞咽障礙；產(chǎn)前發(fā)作；呼吸功能不全；反復(fù)呼吸道感染；電機(jī)延遲；沒(méi)有運(yùn)動(dòng)里程碑的發(fā)展；高度可變的臨床表型；高度可變的表型和嚴(yán)重程度；高度可變的表型即使在家庭內(nèi)部也是如此；表型變異性；高度可變的嚴(yán)重性；可變表現(xiàn)力；嬰兒喂養(yǎng)困難；拜占庭拱形上顎；上瞼下垂；后天性脊柱側(cè)凸；脊柱彎曲；未能增加體重；兒科發(fā)育不良；肌肉張力減退；認(rèn)知延遲；整體發(fā)育遲緩；智力和運(yùn)動(dòng)遲緩；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）：

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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，獲得及明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）：

Latrunculin A (Structural constituent of cytoskeleton);Sucrose (Structural constituent of cytoskeleton);Ulapualide A (Structural constituent of cytoskeleton);Kabiramide C (Structural constituent of cytoskeleton);Jaspisamide A (Structural constituent of cytoskeleton);Tmr (Structural constituent of cytoskeleton);4-Methyl-Histidine (Structural constituent of cytoskeleton);Phosphoaminophosphonic Acid-Adenylate Ester (Structural constituent of cytoskeleton);Aplyronine A (Structural constituent of cytoskeleton);Reidispongiolide A (Structural constituent of cytoskeleton);Reidispongiolide C (Structural constituent of cytoskeleton);Sphinxolide B (Structural constituent of cytoskeleton);LATRUNCULIN B (Structural constituent of cytoskeleton)

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）：

Latrunculin A（細(xì)胞骨架的結(jié)構(gòu)成分）；蔗糖（細(xì)胞骨架的結(jié)構(gòu)成分）；烏拉普利A（細(xì)胞骨架的結(jié)構(gòu)成分）；Kabiramide C（細(xì)胞骨架的結(jié)構(gòu)成分）；茉莉酰胺A（細(xì)胞骨架的結(jié)構(gòu)成分）；Tmr（細(xì)胞骨架的結(jié)構(gòu)成分） )；4-甲基-組氨酸（細(xì)胞骨架的結(jié)構(gòu)成分）；磷酸氨基膦酸-腺苷酸酯（細(xì)胞骨架的結(jié)構(gòu)成分）；Aplyronine A（細(xì)胞骨架的結(jié)構(gòu)成分）；Reidispongiolide A（細(xì)胞骨架的結(jié)構(gòu)成分）；Reidispongioliide C（細(xì)胞骨架的結(jié)構(gòu)成分）細(xì)胞骨架）；Sphinxolide B（細(xì)胞骨架的結(jié)構(gòu)成分）；LATRUNCULIN B（細(xì)胞骨架的結(jié)構(gòu)成分）