【佳學(xué)基因檢測(cè)】醫(yī)學(xué)博士COL11A1突變檢測(cè)的知識(shí)結(jié)構(gòu)準(zhǔn)備

基因檢測(cè)的序列名稱：

COL11A1

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：

1301

人體基因序列數(shù)據(jù)庫(kù)中國(guó)際交流名稱全稱

collagen type XI alpha 1 chain

中國(guó)數(shù)據(jù)庫(kù)中基因全稱：

XI型膠原蛋白alpha 1鏈

基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介

This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]

基因突變所影響的基因信息

該基因編碼XI型膠原（一種次要纖維狀膠原）的兩條α鏈之一。XI型膠原蛋白是異源三聚體，但第三條α鏈?zhǔn)欠g后修飾的II型α1鏈。該基因的突變與II型Stickler綜合征和Marshall綜合征有關(guān)。該基因中的單核苷酸多態(tài)性也與腰椎間盤(pán)突出癥的易感性有關(guān)。已經(jīng)為該基因鑒定了多種轉(zhuǎn)錄物變體。[由RefSeq提供，2009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：

CO11A1, COLL6, DFNA37, STL2

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：103342023；結(jié)束位置坐標(biāo)為：103574052。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：102876467；結(jié)束位置坐標(biāo)為：103108580。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

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）：

Endoplasmic reticulum

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）：

內(nèi)質(zhì)網(wǎng)

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

FIBROCHONDROGENESIS 1; Irregular proximal tibial epiphyses; Marshall syndrome; Meningeal calcification; STICKLER SYNDROME, TYPE II (disorder); Small distal femoral epiphysis; Small proximal tibial epiphyses; Wide tufts of distal phalanges; Widely patent coronal suture; Widely patent sagittal suture; Abnormality of the vitreous humor; Broad ischia; Fibrochondrogenesis; Intervertebral Disk Displacement; Irregular distal femoral epiphysis; Hyperplasia of permanent maxillary central incisor; Hypertrophy of permanent maxillary central incisor; Increased size of permanent maxillary central incisor; Posterior vertebral hypoplasia; Prominent, protruding upper incisors; Dumbbell-shaped long bones; Thick upper lip vermilion; Thin clavicle; Abnormal diaphysis morphology; Broad long bones; Posterior rib cupping; Anterior rib cupping; Calcification of falx cerebri; Decreased pneumatization of frontal sinus; Hypoplastic frontal sinuses; Hypotrophic frontal sinus; Narrow sacrosciatic notch; Upper airway obstruction; Angle Closure Glaucoma; Intervertebral disc disorder; Long clavicle; Spondyloepiphyseal Dysplasia; Absent frontal sinuses; Aplasia of frontal sinus; Congenital hypoplasia of femur; Fibular hypoplasia; Long fingers; Vitreoretinal degeneration; Bell-shaped thorax; Foramen Ovale, Patent; Glossoptosis; Posterior displacement of the tongue; Ulnar bowing; Hypoplastic fingernails; Hypoplastic ischia; Broad ribs; Hearing abnormality; Pierre Robin Syndrome; Corneal diameter increased; Hypoplastic ilia; Radial bowing; Small wings of the pelvic girdle; Abnormal development of end part of bone; Congenital keratoglobus; Epiphyseal dysplasia; Hypoplastic scapulae; Thoracic hypoplasia; Arthropathy; Irregular vertebral endplates; Protuberant abdomen; Ectopia Lentis; Increased thickness of cranium; Stillbirth; Thickened calvaria; Amblyopia; Esotropia; Femoral bowing; Congenital omphalocele; Thin rib; Astigmatism; Coxa valga; Coxa valga deformity; Depressed cheekbone; Flattening of the zygomatic bone; Hydrops Fetalis; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Hypotrophic cheekbone; Severe myopia; Small cheekbone; Short tubular bones; Hypohidrosis; Rhizomelia; Cleft uvula; Hypotrichosis; Contracture of joint of hand; Short ribs; Abnormally-shaped vertebrae; Range of joint movement increased; Retinal Detachment; Small hand; Congenital Camptodactyly; Auricular malformation; Simple ear; Ovarian Cysts; Wide anterior fontanel; Round face; Round, full face; Abnormality of the metaphyses; Arachnodactyly; Cerebral calcification; Clouding of corneal stroma; Flat face; Corneal Opacity; Narrow thorax; Short hands; Knee joint valgus deformity; Platyspondyly; Retinal Diseases; Congenital Bilateral Cataracts; Congenital cataract; Micromelia; Dental abnormalities; 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; Premature birth of newborn; Hypoplastic feet; Tooth Abnormalities; Osteochondrodysplasias; Premature Birth; Joint hyperflexibility; Microstomia; Brachycephaly; Broad cranium shape; Wide skull shape; Arthralgia; Exophthalmos; Prominent eyes; Prominent globes; Protruding eyes; Decreased projection of midface; Hypotrophic midface; Midface retrusion; Small midface; Bilateral fifth finger clinodactyly; Curvature of little finger; Degenerative polyarthritis; Myopia; Glaucoma; Brachydactyly; Respiratory function loss; Hypotrophic malar bone; Malar flattening; Short nose; Small nose; Long philtrum; Respiratory Insufficiency; Short neck; Craniofacial Abnormalities; Frontal bossing; Downward slant of palpebral fissure; Uranostaphyloschisis; Low Vision; Visual Impairment; Congenital Epicanthus; Low set ears; Anteverted nostril; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Cleft Palate; Lens Opacities; Broad flat nasal bridge; Nasal bridge wide; Cataract; Orbital separation excessive; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Sensorineural Hearing Loss (disorder); Short stature; 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）：

纖維軟骨生成 2型；不規(guī)則的脛骨近端骨骺；馬歇爾綜合癥；腦膜鈣化； STICKLER 綜合癥II 型（障礙）；小的股骨遠(yuǎn)端骨骺；脛骨近端骨骺小；寬簇的遠(yuǎn)端指骨；冠狀縫廣泛專利；廣泛專利矢狀縫合；玻璃體液異常；廣泛的坐骨;纖維軟骨形成；椎間盤(pán)移位；不規(guī)則的股骨遠(yuǎn)端骨骺；恒上頜中切牙增生；恒上頜中切牙肥大；恒上頜中切牙尺寸增加；后椎骨發(fā)育不全;突出的上門(mén)牙；啞鈴形長(zhǎng)骨；厚厚的上唇朱紅色；瘦鎖骨；骨干形態(tài)異常；寬大的長(zhǎng)骨；后肋拔罐；前肋拔罐；大腦鐮鈣化；額竇氣化減少；發(fā)育不良的額竇;萎縮性額竇;狹窄的骶骨切跡；上呼吸道阻塞；閉角型青光眼；椎間盤(pán)疾??；長(zhǎng)鎖骨；脊椎骨骺發(fā)育不良；沒(méi)有額竇；額竇發(fā)育不全;先天性股骨發(fā)育不全；腓骨發(fā)育不全;長(zhǎng)手指；玻璃體視網(wǎng)膜變性；鐘形胸部；卵圓孔專利；舌下垂；舌頭向后移位；尺骨彎曲；指甲發(fā)育不全；坐骨發(fā)育不全；肋骨寬；聽(tīng)力異常；皮埃爾羅賓綜合癥；角膜直徑增加；髂骨發(fā)育不良；徑向彎曲；骨盆帶的小翼；骨末端發(fā)育異常；先天性角化球;骨骺發(fā)育不良;肩胛骨發(fā)育不全；胸廓發(fā)育不全；關(guān)節(jié)病;不規(guī)則的椎骨終板；腹部隆起；異位扁豆；顱骨厚度增加；死胎;加厚的顱骨；弱視;內(nèi)斜視；股骨彎曲；先天性臍膨出；細(xì)肋;散光;髖外翻；髖外翻畸形；顴骨凹陷；顴骨變平；胎兒水腫；顴骨發(fā)育不全;發(fā)育不全的腳趾甲；顴骨肥大；嚴(yán)重近視；小顴骨；短管狀骨；少汗癥；根莖;懸雍垂裂；少毛癥;手關(guān)節(jié)攣縮；短肋;異常形狀的椎骨；關(guān)節(jié)活動(dòng)范圍增加；視網(wǎng)膜脫離；小手；先天性彎曲指；耳廓畸形；簡(jiǎn)單的耳朵；卵巢囊腫;寬大的前囟門(mén)；圓臉;圓形全臉；干骺端異常；蛛形綱；腦鈣化；角膜基質(zhì)混濁；平面；角膜混濁；狹窄的胸部;手短；膝關(guān)節(jié)外翻畸形；鴨嘴獸;視網(wǎng)膜疾病；先天性雙眼白內(nèi)障；先天性白內(nèi)障；小梅利亞；牙齒異常；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；新生兒早產(chǎn)；發(fā)育不全的腳；牙齒異常；骨軟骨發(fā)育不良;早產(chǎn)；關(guān)節(jié)過(guò)度靈活；小口癥；短頭畸形；寬顱骨形狀；寬顱骨形狀；關(guān)節(jié)痛;眼球突出；突出的眼睛;突出的地球儀；突出的眼睛;面部中部突出減少；中面部營(yíng)養(yǎng)不良；面中部后縮；中臉??；雙側(cè)小指彎曲；小指彎曲；退行性多關(guān)節(jié)炎;近視;青光眼;短指；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;長(zhǎng)人中；呼吸功能不全；脖子短；顱面異常；正面凸起；瞼裂向下傾斜； Uranostaphyloschisis;低視力;視力障礙；先天性內(nèi)眥贅皮；低位耳朵；鼻孔前傾；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；腭裂；晶狀體混濁；寬扁的鼻梁；鼻梁寬；白內(nèi)障;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；感音神經(jīng)性聽(tīng)力損失（障礙）；身材矮?。怀Ｈ旧w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）：

Fibrinogen

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）：

纖維蛋白原

以該基因做靶點(diǎn)的藥物（國(guó)際版）：

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）：

醫(yī)學(xué)博士COL11A1突變檢測(cè)的知識(shí)結(jié)構(gòu)準(zhǔn)備

(責(zé)任編輯：佳學(xué)基因)