【佳学基因检测】遗传代谢科分子病理检测知识测验中关于GBA的准备

基因检测的序列名称：

GBA

人体基因序列变化与疾病表征数据库中的基因代码：

2629

人体基因序列数据库中国际交流名称全称

glucosylceramidase beta

中国数据库中基因全称：

葡萄糖基神经酰胺酶β

基因检测报告英文版基因简介

This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

基因突变所影响的基因信息

该基因编码溶酶体膜蛋白，该蛋白裂解糖基神经酰胺（糖脂代谢的中间体）的β-糖苷键。该基因的突变会导致戈谢病，这是一种溶酶体贮积病，其特征是糖脑苷脂的积累。一个相关的假基因在1号染色体上位于该基因的下游约12 kb。选择性剪接导致多个转录物变体。[由RefSeq提供，2010年1月]

国际国内该碱基基因序列的其他英语文字母简称：

GBA1, GCB, GLUC

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精准定位

该基因序列在GRCh37版本中的起始位置坐标为：155204239；结束位置坐标为：155214653。该基因序列在GRCh38版本中的起始位置坐标为：155234448；结束位置坐标为：155244862。精准的基因信息定位是基因检测和对检测结果进行准确解读的关键。

佳学基因解码对该基因的功能分类：国际版

Enzymes/ENZYME proteins/Hydrolases

基因解码对该基因的功能分类：中文版

酶/酶蛋白/水解酶

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）：

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

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）：

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

该基因序列变化后增加的疾病风险（国际版）：

Aortic stenosis due to calcifications; Decreased beta-glucocerebrosidase protein and activity; GAUCHER DISEASE, PERINATAL LETHAL; Gaucher Disease, Type 2 (disorder); Gaucher Disease, Type 3 (disorder); Gaucher Disease, Type Iiic; Gaucher-like disease; Horizontal supranuclear gaze palsy; Hypometric horizontal saccades; Mitral stenosis due to calcifications; Plasmacytoma; Slowed horizontal saccades; Aortic calcification; Gaucher Disease, Type 1; Vascular calcification; Atrophoderma maculatum; Bulbar signs; Drooping upper lip; Erlenmeyer flask femora; Everted upper lip vermilion; Gaucher Disease; Hypersplenism; Protruding upper lip; Recurrent aspiration pneumonia; Supranuclear ophthalmoplegia; Decrease in jaw opening; Limited jaw mobility; Limited jaw opening; Lung Diseases, Interstitial; Reticulate hyperpigmentation; Trismus; Autosomal dominant late onset Parkinson disease; Aseptic Necrosis of Bone; Aseptic necrosis; Bone infarction; Abnormality of aortic arch; Bone necrosis; Globulin gamma serum plasma increased result; Hydrops Fetalis, Non-Immune; Hyperglobulinemia; Raised level of immunoglobulins NOS; gamma globulins increased; Horizontal Nystagmus; Hypergammaglobulinemia; Desquamation of skin soon after birth; Early severe fetal akinesia sequence; Pena-Shokeir syndrome type I; Akinesia; Petechiae; Collapse of vertebra; Compression fracture of vertebral column; Neonatal Death; Opisthotonus; Thoracic hypoplasia; Intracranial Hemorrhages; Apathy; Congenital Nonbullous Ichthyosiform Erythroderma; Paraparesis, Spastic; Protuberant abdomen; Stillbirth; Underweight; Weight less than 3rd percentile; Gingival Hemorrhage; Esotropia; Hypokinesia; Progressive neurologic deterioration; Abnormal respiratory patterns; Pathological fracture; Ascites; Ectropion; Increased susceptibility to fractures; Lewy Body Disease; Hydrops Fetalis; Osteosclerosis; Coughing; Defective or absent horizontal voluntary eye movements; Oculomotor apraxia; Purpura; Lytic lesion; Cloudy cornea; Corneal stromal opacities; Multiple Myeloma; Hyperpigmentation; Pancytopenia; Generalized myoclonic seizures; Idiopathic pulmonary arterial hypertension; Pulmonary arterial hypertension; Epilepsies, Myoclonic; Bone pain; Epistaxis; Respiratory distress; Apnea; Hyperkeratosis; Open mouth; Congenital small ears; Anorexia; Muscle Rigidity; Myoclonic Epilepsies, Progressive; Encephalopathies; Arthrogryposis; Everted lower lip vermilion; Protruding lower lip; Reduced fetal movement; Retrognathia; Parkinsonian Disorders; Triangular face; Speech Disorders; Parkinson Disease; Ecchymosis; Increased tendency to bruise; Premature birth of newborn; Pulmonary Hypertension; Dyspnea; Liver Failure; Premature Birth; Microstomia; Myoclonus; Dementia; Death in early childhood; Death in infancy; Adult onset; Polyhydramnios; Congenital pes cavus; Muscle Hypertonia; Contracture of joint; Flexion contracture; Flexion contractures of joints; Supratentorial atrophy; Contracture; Delayed Puberty; Generalized osteopenia; Ophthalmoplegia; Osteopenia; Degenerative brain disorder; Weight decreased; Abdominal Pain; Dystonic disease; Decreased platelet count; Low-set, posteriorly rotated ears; Hydrocephalus; Hyperkyphosis; Cardiomegaly; Dystonia; Kyphosis deformity of spine; Dilated ventricles (finding); Feeding difficulties; Hemoglobin low; Thrombocytopenia; Deglutition Disorders; Short nose; Small nose; Delayed bone age; Gait abnormality; 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; Anemia; Infant, Small for Gestational Age; Intrauterine retardation; Low set ears; Cerebral atrophy; Congenital deafness; Fetal Growth Retardation; Hearing Loss, Partial; Splenomegaly; Anteverted nostril; Fatigue; Byzanthine arch palate; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Deafness; Muscle Spasticity; hearing impairment; Hyperreflexia; Orbital separation excessive; Cerebellar Ataxia; Hepatomegaly; Strabismus; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Failure to gain weight; Pediatric failure to thrive; Small head; Depressive disorder; Short stature; Epilepsy; Muscle hypotonia; Seizures; Cognitive delay; Global developmental delay; Mental and motor retardation; 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）：

钙化引起的主动脉瓣狭窄； β-葡萄糖脑苷脂酶蛋白和活性降低；高歇病围产期致死；戈谢病2 型（紊乱）；戈谢病3 型（紊乱）；戈谢病IIic 型；戈谢样疾病；水平核上性凝视麻痹；等距水平扫视；钙化引起的二尖瓣狭窄;浆细胞瘤;减慢水平扫视；主动脉钙化；戈谢病1 型；血管钙化； Atrophoderma maculatum；延髓征；上唇下垂；锥形瓶股骨；外翻上唇朱红色；戈谢病；脾功能亢进;上唇突出；复发性吸入性肺炎；核上性眼肌麻痹;下颌张开度减少；下颌活动受限；下颌张开受限；肺部疾病间质性；网状色素沉着；牙关紧闭；常染色体显性迟发性帕金森病；骨无菌性坏死；无菌性坏死；骨梗塞；主动脉弓异常；骨坏死；血清γ球蛋白血浆升高的结果； Hydrops Fetalis非免疫；高球蛋白血症；免疫球蛋白水平升高 NOS；丙种球蛋白增加；水平眼球震颤；高丙种球蛋白血症；出生后不久皮肤脱屑；早期严重胎儿运动不能序列； Pena-Shokeir 综合征 I 型；运动不能；瘀点；椎骨塌陷；脊柱压缩性骨折；新生儿死亡；角弓反张；胸廓发育不全；颅内出血；冷漠；先天性非大疱性鱼鳞病样红皮病；轻瘫痉挛；腹部隆起；死胎;减持；体重低于第 3 个百分位数；牙龈出血；内斜视；运动减退；进行性神经功能恶化；呼吸模式异常；病理性骨折；腹水;外翻;骨折易感性增加；路易体病；胎儿水肿；骨硬化；咳嗽；水平随意眼球运动有缺陷或缺失；动眼神经失用症；紫癜;裂解性病变；多云角膜;角膜基质混浊；多发性骨髓瘤;色素沉着过度；全血细胞减少症；全身性肌阵挛发作；特发性肺动脉高压;肺动脉高压;癫痫、肌阵挛；骨痛；鼻出血；呼吸窘迫；呼吸暂停；角化过度;张开嘴;先天性小耳朵；厌食症；肌肉僵硬；肌阵挛性癫痫进行性；脑病;关节挛缩症；外翻下唇朱红色；下唇突出；胎动减少；后颌畸形；帕金森病；三角脸；言语障碍；帕金森综合症;瘀斑;瘀伤倾向增加；新生儿早产；肺动脉高压;呼吸困难；肝功能衰竭；早产；小口症；肌阵挛；失智;童年早期死亡；婴儿期死亡；成人发病；羊水过多;先天性高弓足；肌肉张力亢进；关节挛缩；屈曲挛缩；关节屈曲挛缩；幕上萎缩；挛缩;青春期延迟；广泛性骨质减少；眼肌麻痹;骨质减少；退化性脑病；体重下降；腹痛；肌张力障碍疾病；血小板计数减少；位置低、向后旋转的耳朵；脑积水;脊柱后凸;心脏肥大；肌张力障碍；脊柱后凸畸形；扩张的心室（发现）；进食困难；血红蛋白低；血小板减少症;吞咽障碍；鼻子短；小鼻子;骨龄延迟；步态异常；反复呼吸道感染；电机延迟；没有运动里程碑的发展；高度可变的临床表型；高度可变的表型和严重程度；高度可变的表型即使在家庭内部也是如此；表型变异性；贫血;婴儿小于胎龄儿；宫内发育迟缓;低位耳朵；脑萎缩；先天性耳聋；胎儿生长迟缓；部分听力损失；脾肿大;鼻孔前倾；疲劳;拜占庭拱形上颚；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；耳聋；肌肉痉挛；听力受损;反射亢进；轨道分离过度；小脑性共济失调；肝肿大；斜视；发育不全的下颌骨髁；下颌发育不全;小颌畸形；未能增加体重；儿科发育不良；小头;抑郁症；身材矮小；癫痫;肌肉张力减退；癫痫发作；认知延迟；整体发育迟缓；智力和运动迟缓；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）：

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

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）：

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

以该基因做靶点的药物（国际版）：

Myo-Inositol (Receptor binding);N-acetyl-alpha-D-glucosamine (Receptor binding);Velaglucerase alfa (Receptor binding);(2R,3R,4R,5S)-2-(HYDROXYMETHYL)-1-NONYLPIPERIDINE-3,4,5-TRIOL (Receptor binding)

针对该基因所产生的突变，可能有精准效果的药物（中文版）：

肌醇（受体结合）；N-乙酰基-α-D-氨基葡萄糖（受体结合）；维拉苷酶 alfa（受体结合）；(2R,3R,4R,5S)-2-(HYDROXYMETHYL)-1-NONYLPIPERIDINE-3 ,4,5-三醇（受体结合）