【佳学基因检测】医学博士COL11A1突变检测的知识结构准备

基因检测的序列名称：

COL11A1

人体基因序列变化与疾病表征数据库中的基因代码：

1301

人体基因序列数据库中国际交流名称全称

collagen type XI alpha 1 chain

中国数据库中基因全称：

XI型胶原蛋白alpha 1链

基因检测报告英文版基因简介

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]

基因突变所影响的基因信息

该基因编码XI型胶原（一种次要纤维状胶原）的两条α链之一。XI型胶原蛋白是异源三聚体，但第三条α链是翻译后修饰的II型α1链。该基因的突变与II型Stickler综合征和Marshall综合征有关。该基因中的单核苷酸多态性也与腰椎间盘突出症的易感性有关。已经为该基因鉴定了多种转录物变体。[由RefSeq提供，2009年11月]

国际国内该碱基基因序列的其他英语文字母简称：

CO11A1, COLL6, DFNA37, STL2

基因解码对该基因序列在细胞核中的染色体所给予的编号：

该基因序列位于人类第1号染色体上。

基因解码对基因序列的正确定位

该基因序列在GRCh37版本中的起始位置坐标为：103342023；结束位置坐标为：103574052。该基因序列在GRCh38版本中的起始位置坐标为：102876467；结束位置坐标为：103108580。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。

佳学基因解码对该基因的功能分类：国际版

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基因解码对该基因的功能分类：中文版

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结构与功能基因解码所揭示的该基因在细胞内发挥作用的场所（国际版）：

Endoplasmic reticulum

结构与功能基因解码所揭示的该基因发挥作用的细胞内位置（中文版）：

内质网

该基因序列变化后增加的疾病风险（国际版）：

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

如果该基因突变后，风险可能增加的疾病类型（中文版）：

纤维软骨生成 2型；不规则的胫骨近端骨骺；马歇尔综合症；脑膜钙化； STICKLER 综合症II 型（障碍）；小的股骨远端骨骺；胫骨近端骨骺小；宽簇的远端指骨；冠状缝广泛专利；广泛专利矢状缝合；玻璃体液异常；广泛的坐骨;纤维软骨形成；椎间盘移位；不规则的股骨远端骨骺；恒上颌中切牙增生；恒上颌中切牙肥大；恒上颌中切牙尺寸增加；后椎骨发育不全;突出的上门牙；哑铃形长骨；厚厚的上唇朱红色；瘦锁骨；骨干形态异常；宽大的长骨；后肋拔罐；前肋拔罐；大脑镰钙化；额窦气化减少；发育不良的额窦;萎缩性额窦;狭窄的骶骨切迹；上呼吸道阻塞；闭角型青光眼；椎间盘疾病；长锁骨；脊椎骨骺发育不良；没有额窦；额窦发育不全;先天性股骨发育不全；腓骨发育不全;长手指；玻璃体视网膜变性；钟形胸部；卵圆孔专利；舌下垂；舌头向后移位；尺骨弯曲；指甲发育不全；坐骨发育不全；肋骨宽；听力异常；皮埃尔罗宾综合症；角膜直径增加；髂骨发育不良；径向弯曲；骨盆带的小翼；骨末端发育异常；先天性角化球;骨骺发育不良;肩胛骨发育不全；胸廓发育不全；关节病;不规则的椎骨终板；腹部隆起；异位扁豆；颅骨厚度增加；死胎;加厚的颅骨；弱视;内斜视；股骨弯曲；先天性脐膨出；细肋;散光;髋外翻；髋外翻畸形；颧骨凹陷；颧骨变平；胎儿水肿；颧骨发育不全;发育不全的脚趾甲；颧骨肥大；严重近视；小颧骨；短管状骨；少汗症；根茎;悬雍垂裂；少毛症;手关节挛缩；短肋;异常形状的椎骨；关节活动范围增加；视网膜脱离；小手；先天性弯曲指；耳廓畸形；简单的耳朵；卵巢囊肿;宽大的前囟门；圆脸;圆形全脸；干骺端异常；蛛形纲；脑钙化；角膜基质混浊；平面；角膜混浊；狭窄的胸部;手短；膝关节外翻畸形；鸭嘴兽;视网膜疾病；先天性双眼白内障；先天性白内障；小梅利亚；牙齿异常；饱满的下唇；突出的下唇；上颌骨突出减少；上颌骨缺乏；上颌骨发育不全;上颌骨营养不良；上颌后缩;上颌骨后缩；新生儿早产；发育不全的脚；牙齿异常；骨软骨发育不良;早产；关节过度灵活；小口症；短头畸形；宽颅骨形状；宽颅骨形状；关节痛;眼球突出；突出的眼睛;突出的地球仪；突出的眼睛;面部中部突出减少；中面部营养不良；面中部后缩；中脸小；双侧小指弯曲；小指弯曲；退行性多关节炎;近视;青光眼;短指；呼吸功能丧失；营养不良的颧骨;颧骨变平；鼻子短；小鼻子;长人中；呼吸功能不全；脖子短；颅面异常；正面凸起；睑裂向下倾斜； Uranostaphyloschisis;低视力;视力障碍；先天性内眦赘皮；低位耳朵；鼻孔前倾；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；腭裂；晶状体混浊；宽扁的鼻梁；鼻梁宽；白内障;轨道分离过度；发育不全的下颌骨髁；下颌发育不全;小颌畸形；感音神经性听力损失（障碍）；身材矮小；常染色体隐性易感性

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

Fibrinogen

GWAS基因检测所解码的该基因突变会增加风险的疾病种类（中文版）：

纤维蛋白原

以该基因做靶点的药物（国际版）：

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针对该基因所产生的突变，可能有正确效果的药物（中文版）：

正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容