【佳學(xué)基因檢測(cè)】解密FBN1基因篩查結(jié)果，如何指導(dǎo)一個(gè)的健康？

基因檢測(cè)的序列名稱：

FBN1

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：

2200

人體基因序列數(shù)據(jù)庫(kù)中國(guó)際交流名稱全稱

fibrillin 1

中國(guó)數(shù)據(jù)庫(kù)中基因全稱：

原纖維蛋白1

基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介

This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016]

基因突變所影響的基因信息

該基因編碼原纖維蛋白家族的成員。編碼的前原蛋白經(jīng)過(guò)蛋白水解處理后生成兩種蛋白，包括細(xì)胞外基質(zhì)成分原纖維蛋白1和蛋白激素asprosin。Fibrillin-1是一種細(xì)胞外基質(zhì)糖蛋白，可作為鈣結(jié)合微纖維的結(jié)構(gòu)成分。這些微纖維在整個(gè)身體的彈性和非彈性結(jié)締組織中提供了承力結(jié)構(gòu)支撐。由白色脂肪組織分泌的Asprosin已顯示出調(diào)節(jié)葡萄糖穩(wěn)態(tài)的作用。該基因的突變與馬凡氏綜合癥和相關(guān)的MASS表型有關(guān)，還包括輕度偏遠(yuǎn)癥候群，威爾-馬切薩尼綜合癥，Shprintzen-Goldberg綜合癥和新生兒類胚綜合癥。[由Re??

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：

ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2

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15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：48700503；結(jié)束位置坐標(biāo)為：48937985。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：48408306；結(jié)束位置坐標(biāo)為：48645788。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

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

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

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）：

Cytosol

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）：

Cytosol

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

Abnormality of cardiac ventricle; ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; Fifth metacarpal notched on ulnar side; GELEOPHYSIC DYSPLASIA 2; GEMSS syndrome; Incisional hernia; Iridodonesis; Medial rotation of the medial malleolus; OVERLAP CONNECTIVE TISSUE DISEASE; Premature calcification of mitral annulus; Recurrent abdominal hernia; Stiff Skin Syndrome; Broad phalanges of the hand; Broad skull; Dilatation of pulmonary artery, unspecified; Echocardiogram abnormal; Hypoxemia; Increased arm span; Increased axial globe length; Shprintzen-Goldberg syndrome; Talipes Calcaneovarus; Tricuspid Valve Prolapse; Crumpled ear; Geleophysic dysplasia; Stiff skin; Weill-Marchesani syndrome; Dural ectasia; Proportionate short stature; Shallow anterior chamber of eye; Toe-walking gait; Tricuspid Valve Insufficiency; Acromicric Dysplasia; Aneurysm of ascending aorta; Aortic Rupture; Ascending aorta dilatation; Broad metacarpals; Broad metatarsals; Heart murmur; Long toes; Mitral Valve Stenosis; Widened metatarsal shaft; Premature osteoarthritis; Pneumothorax; Protrusio acetabuli; Spondylolisthesis; Abnormality of position of teeth; Aortic Aneurysm, Thoracic; Misalignment of teeth; Dilatation of aorta; Dissection of aorta; Marfan Syndrome; Thin bony cortex; Hypoplasia of iris; Lack of skin elasticity; Stretched skin; Aortic root dilatation; Marfanoid body habitus; Broad ribs; Eyebrow abnormalities; Genu recurvatum; Spinal canal stenosis; Aortic aneurysm, familial thoracic 3; Ascending aortic dissection; Corneal diameter increased; Cystic medial necrosis of aorta; Decreased subcutaneous adipose tissue; Descending aortic dissection; Dyspnea, Paroxysmal; Loeys-Dietz Aortic Aneurysm Syndrome; Shallow orbits; Abnormality of the iris; Congenital keratoglobus; Linear atrophy; Respiratory Distress Syndrome; Impaired left ventricular function; Left-Sided Heart Failure; Spade-like hand; Bullet vertebral body; Ectopia Lentis; Fetal overgrowth; Generalized overgrowth; Overgrowth; Ovoid vertebral bodies; Enlarged thorax; Lipoatrophy; Sternal anomalies; Aortic Valve Stenosis; Narrow palate; Deep philtrum; Depressed philtrum; Diffusely thickened skin; Pachyderma; Adducted thumb; Severe myopia; Hammer Toe; Pulmonary Emphysema; Short tubular bones; Cone-shaped epiphyses; Cutis Laxa; Dyspnea on exertion; Generalized elastolysis; Hanging skin; Hypoplasia of thumb; Aortic Valve Insufficiency; Decreased muscle mass; Hoarseness; Cutis marmorata; High, narrow palate; Mitral regurgitation, mild; Short phalanx of finger; Blue sclera; Hyperglycemia; Mitral Valve Insufficiency; Range of joint movement increased; Retinal Detachment; Tall stature; Lumbar lordosis; Dwarfism; Long eyelashes; Chest Pain; Small hand; Idiopathic pulmonary arterial hypertension; Mitral Valve Prolapse Syndrome; Pulmonary arterial hypertension; Decreased nerve conduction velocity; Smooth philtrum; Short metacarpal; Inadequate arch length for tooth size; Pulmonary Stenosis; Round face; Round, full face; Tooth Crowding; Tooth mass arch size discrepancy; Tooth size discrepancy; Bulbous nasal tip; Bulbous nose; Potato nose; Arachnodactyly; Chubby cheeks; Full cheeks; Hyperplasia of cheeks; Hypertrophy of cheeks; Puffy cheeks; Congenital pectus carinatum; Decreased joint mobility; Narrow face; Short hands; Thin face; Retrognathia; Kyphoscoliosis deformity of spine; Dental abnormalities; Enophthalmos; Sunken eyes; Full lower lip; Prominent lower lip; Decreased projection of maxilla; Deficiency of upper jaw bones; Hypoplasia of the maxilla; Hypotrophic maxilla; Maxillary retrognathia; Retrusion of upper jaw bones; Hypoplastic feet; Low Birth Weights; Pulmonary Hypertension; Small for gestational age (disorder); Thin upper lip vermilion; Tooth Abnormalities; Long face; Mild Mental Retardation; Acquired flat foot; Flatfoot; Congestive heart failure; Small testicle; Patent ductus arteriosus; Class III malocclusion; Coronary Artery Disease; Hypertrophy of lower jaw; Increased size of mandible; Long narrow head; Mandibular hyperplasia; Microstomia; Narrow cranium shape; Narrow head shape; Narrow skull shape; Turridolichocephaly; mandibular excess (physical finding); Joint stiffness; Hyperinsulinism; Brachycephaly; Broad cranium shape; Congenital pes cavus; Wide skull shape; Contracture of joint; Flexion contracture; Flexion contractures of joints; Contracture; Pectus excavatum; Mental impairment; Impaired cognition; Blindness, Legal; Blind Vision; Cardiomegaly; Myopia; Glaucoma; Ventricular Septal Defects; Decreased tendon reflex; Brachydactyly; Feeding difficulties; Increase in blood pressure; Respiratory function loss; Hypotrophic malar bone; Malar flattening; Short nose; Small nose; Delayed bone age; Long philtrum; Liver Cirrhosis; Respiratory Insufficiency; Motor delay; No development of motor milestones; Endometriosis; Downward slant of palpebral fissure; Heart failure; Low set ears; Anteverted nostril; Byzanthine arch palate; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Lens Opacities; Broad flat nasal bridge; Nasal bridge wide; Cataract; Orbital separation excessive; Hepatomegaly; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Acquired scoliosis; Curvature of spine; Hypertensive disease; Short stature; Muscle hypotonia; Liver Cirrhosis, Experimental

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

心室異常； ECTOPIA LENTIS 1型分離的常染色體顯性遺傳；第五掌骨在尺側(cè)切刻；地質(zhì)發(fā)育不良 2型； GEMSS 綜合癥；切口疝； Iridodonesis;內(nèi)踝向內(nèi)旋轉(zhuǎn)；重疊結(jié)締組織??；二尖瓣環(huán)過(guò)早鈣化；反復(fù)性腹疝；僵硬皮膚綜合癥；手的寬指骨；寬闊的頭骨；肺動(dòng)脈擴(kuò)張未明確；超聲心動(dòng)圖異常；低氧血癥；臂展增加；增加軸向球體長(zhǎng)度； Shprintzen-Goldberg 綜合征；足跟骨足；三尖瓣脫垂；皺巴巴的耳朵； Geleophysic發(fā)育不良;皮膚僵硬； Weill-Marchesani 綜合征；硬腦膜擴(kuò)張；比例矮??；淺眼前房;腳趾行走步態(tài)；三尖瓣關(guān)閉不全；肢端發(fā)育不良；升主動(dòng)脈瘤;主動(dòng)脈破裂；升主動(dòng)脈擴(kuò)張；廣泛的掌骨；廣泛的跖骨;心臟雜音；長(zhǎng)腳趾；二尖瓣狹窄；加寬跖骨軸；早發(fā)性骨關(guān)節(jié)炎；氣胸;髖臼突出；脊椎滑脫;牙齒位置異常；主動(dòng)脈瘤胸部；牙齒錯(cuò)位；主動(dòng)脈擴(kuò)張;主動(dòng)脈夾層；馬凡氏綜合癥；薄骨皮質(zhì);虹膜發(fā)育不全;皮膚缺乏彈性；拉伸的皮膚；主動(dòng)脈根部擴(kuò)張； Marfanoid體型；肋骨寬；眉毛異常；反膝；椎管狹窄；主動(dòng)脈瘤家族性胸2型；升主動(dòng)脈夾層；角膜直徑增加；主動(dòng)脈囊性內(nèi)側(cè)壞死；皮下脂肪組織減少；降主動(dòng)脈夾層；呼吸困難陣發(fā)性； Loeys-Dietz 主動(dòng)脈瘤綜合征；淺軌道；虹膜異常；先天性角化球;線狀萎縮；呼吸窘迫綜合征；左心室功能受損；左心衰竭；鏟狀手；子彈椎體；異位扁豆；胎兒過(guò)度生長(zhǎng)；普遍過(guò)度生長(zhǎng)；過(guò)度生長(zhǎng)；卵圓形椎體；胸部擴(kuò)大；脂肪萎縮；胸骨異常；主動(dòng)脈瓣狹窄；狹窄的上顎；深人中;抑郁的人中；皮膚普遍增厚；厚皮?。荒粗竷?nèi)收；嚴(yán)重近視；錘狀趾;肺氣腫；短管狀骨；錐形骨骺；皮膚松弛；勞累時(shí)呼吸困難；廣泛性彈性組織溶解；掛皮；拇指發(fā)育不全；主動(dòng)脈瓣關(guān)閉不全；肌肉量減少；嘶啞;橘皮；高而窄的上顎；二尖瓣反流輕度；手指短指骨；藍(lán)色鞏膜;高血糖；二尖瓣關(guān)閉不全；關(guān)節(jié)活動(dòng)范圍增加；視網(wǎng)膜脫離；身材高大；腰椎前凸；侏儒癥；長(zhǎng)長(zhǎng)的睫毛;胸痛;小手；特發(fā)性肺動(dòng)脈高壓;二尖瓣脫垂綜合征；肺動(dòng)脈高壓;神經(jīng)傳導(dǎo)速度降低；光滑的人中；短掌骨；牙齒尺寸的牙弓長(zhǎng)度不足；肺動(dòng)脈狹窄；圓臉;圓形全臉；牙齒擁擠；牙弓大小不一致；牙齒大小不一致；球狀鼻尖；球鼻；土豆鼻子；蛛形綱；胖嘟嘟的臉頰;飽滿的臉頰；臉頰增生;臉頰肥大;浮腫的臉頰；先天性雞胸；關(guān)節(jié)活動(dòng)度下降；窄臉；手短；瘦臉;后頜畸形；脊柱后凸畸形;牙齒異常；眼球內(nèi)陷；凹陷的眼睛；飽滿的下唇；突出的下唇；上頜骨突出減少；上頜骨缺乏；上頜骨發(fā)育不全;上頜骨營(yíng)養(yǎng)不良；上頜后縮;上頜骨后縮；發(fā)育不全的腳；低出生體重；肺動(dòng)脈高壓;小于胎齡兒（疾?。?；薄上唇朱紅色；牙齒異常；拉長(zhǎng)著臉;輕度智力低下；后天性扁平足；扁平足;充血性心力衰竭；小睪丸；動(dòng)脈導(dǎo)管未閉； III 類咬合不正；冠狀動(dòng)脈疾病;下頜肥大;下頜骨增大；長(zhǎng)而窄的頭；下頜骨增生;小口癥；狹窄的顱骨形狀；窄頭型；狹窄的顱骨形狀； Turridolicochephaly;下頜過(guò)長(zhǎng)（物理發(fā)現(xiàn)）；關(guān)節(jié)僵硬；高胰島素血癥；短頭畸形；寬顱骨形狀；先天性高弓足；寬顱骨形狀；關(guān)節(jié)攣縮；屈曲攣縮；關(guān)節(jié)屈曲攣縮；攣縮;漏斗胸;精神障礙；認(rèn)知障礙；失明合法；盲目視力；心臟肥大；近視;青光眼;室間隔缺損；肌腱反射減弱；短指；進(jìn)食困難；血壓升高；呼吸功能喪失；營(yíng)養(yǎng)不良的顴骨;顴骨變平；鼻子短；小鼻子;骨齡延遲；長(zhǎng)人中；肝硬化；呼吸功能不全；電機(jī)延遲；沒有運(yùn)動(dòng)里程碑的發(fā)展；子宮內(nèi)膜異位癥；瞼裂向下傾斜；心臟衰竭;低位耳朵；鼻孔前傾；拜占庭拱形上顎；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；晶狀體混濁；寬扁的鼻梁；鼻梁寬；白內(nèi)障;軌道分離過(guò)度；肝腫大；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；高血壓??；身材矮小；肌肉張力減退；肝硬化實(shí)驗(yàn)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）：

Breast Neoplasms;Aortic Aneurysm, Thoracic

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）：

乳腺腫瘤；主動(dòng)脈瘤，胸

以該基因做靶點(diǎn)的藥物（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

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）：

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