【佳學(xué)基因檢測】遺傳代謝科分子病理檢測知識測驗中關(guān)于GBA的準(zhǔn)備

基因檢測的序列名稱：

GBA

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

2629

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

glucosylceramidase beta

中國數(shù)據(jù)庫中基因全稱：

葡萄糖基神經(jīng)酰胺酶β

基因檢測報告英文版基因簡介

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]

基因突變所影響的基因信息

該基因編碼溶酶體膜蛋白，該蛋白裂解糖基神經(jīng)酰胺（糖脂代謝的中間體）的β-糖苷鍵。該基因的突變會導(dǎo)致戈謝病，這是一種溶酶體貯積病，其特征是糖腦苷脂的積累。一個相關(guān)的假基因在1號染色體上位于該基因的下游約12 kb。選擇性剪接導(dǎo)致多個轉(zhuǎn)錄物變體。[由RefSeq提供，2010年1月]

國際國內(nèi)該堿基基因序列的其他英語文字母簡稱：

GBA1, GCB, GLUC

基因解碼對該基因序列在細(xì)胞核中的染色體所給予的編號：

該基因序列位于人類第1號染色體上。

基因解碼對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：155204239；結(jié)束位置坐標(biāo)為：155214653。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：155234448；結(jié)束位置坐標(biāo)為：155244862。正確的基因信息定位是基因檢測和對檢測結(jié)果進(jìn)行正確解讀的關(guān)鍵。

佳學(xué)基因解碼對該基因的功能分類：國際版

Enzymes/ENZYME proteins/Hydrolases

基因解碼對該基因的功能分類：中文版

酶/酶蛋白/水解酶

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)揮作用的場所（國際版）：

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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）：

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該基因序列變化后增加的疾病風(fēng)險（國際版）：

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

如果該基因突變后，風(fēng)險可能增加的疾病類型（中文版）：

鈣化引起的主動脈瓣狹窄； β-葡萄糖腦苷脂酶蛋白和活性降低；高歇病圍產(chǎn)期致死；戈謝病2 型（紊亂）；戈謝病3 型（紊亂）；戈謝病IIic 型；戈謝樣疾??；水平核上性凝視麻痹；等距水平掃視；鈣化引起的二尖瓣狹窄;漿細(xì)胞瘤;減慢水平掃視；主動脈鈣化；戈謝病1 型；血管鈣化； Atrophoderma maculatum；延髓征；上唇下垂；錐形瓶股骨；外翻上唇朱紅色；戈謝?。黄⒐δ芸哼M(jìn);上唇突出；反復(fù)性吸入性肺炎；核上性眼肌麻痹;下頜張開度減少；下頜活動受限；下頜張開受限；肺部疾病間質(zhì)性；網(wǎng)狀色素沉著；牙關(guān)緊閉；常染色體顯性遲發(fā)性帕金森病；骨無菌性壞死；無菌性壞死；骨梗塞；主動脈弓異常；骨壞死；血清γ球蛋白血漿升高的結(jié)果； Hydrops Fetalis非免疫；高球蛋白血癥；免疫球蛋白水平升高 NOS；丙種球蛋白增加；水平眼球震顫；高丙種球蛋白血癥；出生后不久皮膚脫屑；早期嚴(yán)重胎兒運(yùn)動不能序列； Pena-Shokeir 綜合征 I 型；運(yùn)動不能；瘀點；椎骨塌陷；脊柱壓縮性骨折；新生兒死亡；角弓反張；胸廓發(fā)育不全；顱內(nèi)出血；冷漠；先天性非大皰性魚鱗病樣紅皮?。惠p癱痙攣；腹部隆起；死胎;減持；體重低于第 3 個百分位數(shù)；牙齦出血；內(nèi)斜視；運(yùn)動減退；進(jìn)行性神經(jīng)功能惡化；呼吸模式異常；病理性骨折；腹水;外翻;骨折易感性增加；路易體?。惶核[；骨硬化；咳嗽；水平隨意眼球運(yùn)動有缺陷或缺失；動眼神經(jīng)失用癥；紫癜;裂解性病變；多云角膜;角膜基質(zhì)混濁；多發(fā)性骨髓瘤;色素沉著過度；全血細(xì)胞減少癥；全身性肌陣攣發(fā)作；特發(fā)性肺動脈高壓;肺動脈高壓;癲癇、肌陣攣；骨痛；鼻出血；呼吸窘迫；呼吸暫停；角化過度;張開嘴;先天性小耳朵；厭食癥；肌肉僵硬；肌陣攣性癲癇進(jìn)行性；腦病;關(guān)節(jié)攣縮癥；外翻下唇朱紅色；下唇突出；胎動減少；后頜畸形；帕金森??；三角臉；言語障礙；帕金森綜合癥;瘀斑;瘀傷傾向增加；新生兒早產(chǎn)；肺動脈高壓;呼吸困難；肝功能衰竭；早產(chǎn)；小口癥；肌陣攣；失智;童年早期死亡；嬰兒期死亡；成人發(fā)??；羊水過多;先天性高弓足；肌肉張力亢進(jìn)；關(guān)節(jié)攣縮；屈曲攣縮；關(guān)節(jié)屈曲攣縮；幕上萎縮；攣縮;青春期延遲；廣泛性骨質(zhì)減少；眼肌麻痹;骨質(zhì)減少；退化性腦??；體重下降；腹痛；肌張力障礙疾病；血小板計數(shù)減少；位置低、向后旋轉(zhuǎn)的耳朵；腦積水;脊柱后凸;心臟肥大；肌張力障礙；脊柱后凸畸形；擴(kuò)張的心室（發(fā)現(xiàn)）；進(jìn)食困難；血紅蛋白低；血小板減少癥;吞咽障礙；鼻子短；小鼻子;骨齡延遲；步態(tài)異常；反復(fù)呼吸道感染；電機(jī)延遲；沒有運(yùn)動里程碑的發(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；貧血;嬰兒小于胎齡兒；宮內(nèi)發(fā)育遲緩;低位耳朵；腦萎縮；先天性耳聾；胎兒生長遲緩；部分聽力損失；脾腫大;鼻孔前傾；疲勞;拜占庭拱形上顎；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；耳聾；肌肉痙攣；聽力受損;反射亢進(jìn)；軌道分離過度；小腦性共濟(jì)失調(diào)；肝腫大；斜視；發(fā)育不全的下頜骨髁；下頜發(fā)育不全;小頜畸形；未能增加體重；兒科發(fā)育不良；小頭;抑郁癥；身材矮??；癲癇;肌肉張力減退；癲癇發(fā)作；認(rèn)知延遲；整體發(fā)育遲緩；智力和運(yùn)動遲緩；常染色體隱性易感性

GWAS基因檢測所建立的與該基因的疾病關(guān)聯(lián)（國際版）：

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GWAS基因檢測所解碼的該基因突變會增加風(fēng)險的疾病種類（中文版）：

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以該基因做靶點的藥物（國際版）：

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)

針對該基因所產(chǎn)生的突變，可能有正確效果的藥物（中文版）：

肌醇（受體結(jié)合）；N-乙?；?α-D-氨基葡萄糖（受體結(jié)合）；維拉苷酶 alfa（受體結(jié)合）；(2R,3R,4R,5S)-2-(HYDROXYMETHYL)-1-NONYLPIPERIDINE-3 ,4,5-三醇（受體結(jié)合）