【佳學(xué)基因檢測】腦外科博士研究生開題答辯中關(guān)于AGA的準(zhǔn)備題綱

基因檢測的序列名稱：

AGA

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

175

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

aspartylglucosaminidase

中國數(shù)據(jù)庫中基因全稱：

天冬氨酰氨基葡糖苷酶

基因檢測報(bào)告英文版基因簡介

This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]

基因突變所影響的基因信息

該基因編碼蛋白質(zhì)的N末端親核試劑（Ntn）水解酶家族的成員。編碼的前原蛋白經(jīng)過蛋白水解處理以生成包含成熟酶的α和β鏈。該酶參與糖蛋白的N-連接寡糖的分解代謝。它從N-乙酰氨基葡萄糖中裂解天冬酰胺，這是糖蛋白溶酶體降解的賊終步驟之一。該基因的突變與溶酶體貯積病天冬氨酰糖尿癥有關(guān)，后者導(dǎo)致進(jìn)行性神經(jīng)變性。選擇性剪接導(dǎo)致多種轉(zhuǎn)錄物變體，其中至少一種編碼經(jīng)受蛋白水解加工的同種型。[由RefSeq提供，2015年11月]

國際國內(nèi)該堿基因序列的其他英語文字母簡稱：

AGU, ASRG, GA

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4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：178351928；結(jié)束位置坐標(biāo)為：178363657。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：177430774；結(jié)束位置坐標(biāo)為：177442503。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）：

正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及明更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內(nèi)容

該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國際版）：

Aspartylglucosamidase (AGA) deficiency; Aspartylglucosaminuria; Amino acid level abnormal; Anterior beaking of lumbar vertebrae; Fabry Disease; Spondylolysis; Decreased pneumatization of frontal sinus; Hypoplastic frontal sinuses; Hypotrophic frontal sinus; Broad face; Macroorchidism; Spondylolisthesis; Large face; Vacuolated lymphocytes; Beaked vertebral bodies; Hernia; Wedging of vertebra; Abnormality of the ulna; Pfaundler-Hurler Syndrome; Dyskinetic syndrome; Increased thickness of cranium; Thickened calvaria; Pathological fracture; Abnormal cortical bone morphology; Thick vermilion border; Hoarseness; Mitral regurgitation, mild; Gingival Overgrowth; Mitral Valve Insufficiency; Acne; Gingival Hypertrophy; Gingival Hyperplasia; Congenital small ears; Neutrophil count decreased; Congenital pectus carinatum; Joint laxity; Platyspondyly; Speech Disorders; Full lower lip; Prominent lower lip; Macroglossia; Macrostomia; Dental caries; Rotting teeth; Class III malocclusion; Hypertrophy of lower jaw; Increased size of mandible; Mandibular hyperplasia; Umbilical hernia; mandibular excess (physical finding); Brachycephaly; Broad cranium shape; Wide skull shape; Supratentorial atrophy; Degenerative brain disorder; Developmental regression; Loss of developmental milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive; Coarse facial features; Thickened facial skin with coarse facial features; Hyperkyphosis; Delayed speech and language development; Language Delay; Speech Delay; Speech impairment; Kyphosis deformity of spine; Diarrhea; Short nose; Small nose; Abnormality of metabolism/homeostasis; Delayed bone age; Recurrent respiratory infections; Cerebral atrophy; Anteverted nostril; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Muscle Spasticity; Lens Opacities; Broad flat nasal bridge; Nasal bridge wide; Cataract; Orbital separation excessive; Hepatomegaly; Acquired scoliosis; Curvature of spine; Small head; Short stature; Epilepsy; Muscle hypotonia; Seizures; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Schizophrenia; 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）：

天冬氨酰葡糖苷酶 (AGA) 缺乏癥；天冬氨酰氨基葡萄糖尿癥；氨基酸水平異常；腰椎前突；法布里?。蛔倒侨芙?；額竇氣化減少；發(fā)育不良的額竇;萎縮性額竇;寬臉;大蘭花?。患棺祷?大臉；空泡淋巴細(xì)胞；喙?fàn)钭刁w；疝;椎骨楔形;尺骨異常; Pfaundler-Hurler 綜合癥；運(yùn)動(dòng)障礙綜合征;顱骨厚度增加；加厚的顱骨；病理性骨折；皮質(zhì)骨形態(tài)異常；厚朱紅色邊框；嘶啞;二尖瓣反流輕度；牙齦增生；二尖瓣關(guān)閉不全；粉刺;牙齦肥大；牙齦增生；先天性小耳朵；中性粒細(xì)胞計(jì)數(shù)減少；先天性雞胸；關(guān)節(jié)松弛；鴨嘴獸;言語障礙；飽滿的下唇；突出的下唇；巨舌癥；巨口癥；齲齒;蛀牙; III 類咬合不正；下頜肥大;下頜骨增大；下頜骨增生;臍疝;下頜過長（物理發(fā)現(xiàn)）；短頭畸形；寬顱骨形狀；寬顱骨形狀；幕上萎縮；退化性腦??；發(fā)育退化；失去發(fā)展里程碑；童年時(shí)期精神退化；神經(jīng)發(fā)育退化；精神運(yùn)動(dòng)退化；嬰兒期開始的精神運(yùn)動(dòng)退化；嬰兒精神運(yùn)動(dòng)退化；精神運(yùn)動(dòng)性退化進(jìn)行性；粗糙的面部特征；面部皮膚增厚五官粗糙；脊柱后凸;言語和語言發(fā)育遲緩；語言延遲；語音延遲；言語障礙；脊柱后凸畸形；腹瀉;鼻子短；小鼻子;新陳代謝/穩(wěn)態(tài)異常；骨齡延遲；反復(fù)呼吸道感染；腦萎縮；鼻孔前傾；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；肌肉痙攣；晶狀體混濁；寬扁的鼻梁；鼻梁寬；白內(nèi)障;軌道分離過度；肝腫大；后天性脊柱側(cè)凸；脊柱彎曲；小頭;身材矮??；癲癇;肌肉張力減退；癲癇發(fā)作；智力遲鈍；智力低下；智力低下；精神缺陷；學(xué)習(xí)成績差；智力殘疾;精神分裂癥;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）：

Heart Rate

GWAS基因檢測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）：

心率

以該基因做靶點(diǎn)的藥物（國際版）：

正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及明更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內(nèi)容

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）：

正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及明更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內(nèi)容