【佳學(xué)基因檢測(cè)】肚子里的胎兒有三個(gè)月了,疾病風(fēng)險(xiǎn)評(píng)估GABRB3突變,該怎么辦?
基因檢測(cè)的序列名稱:
GABRB3
人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼:
2562
人體基因序列數(shù)據(jù)庫中國(guó)際交流名稱全稱
gamma-aminobutyric acid type A receptor beta3 subunit
中國(guó)數(shù)據(jù)庫中基因全稱:
γ-氨基丁酸A型受體beta3亞基
基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介
This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
基因突變所影響的基因信息
該基因編碼配體門控離子通道家族的成員。編碼的蛋白質(zhì)是多亞基氯通道的亞基之一,可作為γ-氨基丁酸的受體,γ-氨基丁酸是哺乳動(dòng)物神經(jīng)系統(tǒng)的主要抑制性神經(jīng)遞質(zhì)。該基因位于15號(hào)染色體的長(zhǎng)臂上,與其他兩個(gè)編碼該家族相關(guān)亞基的基因成簇。該基因可能與多種疾病的發(fā)病機(jī)理有關(guān),包括安吉曼綜合癥,普拉德-威利綜合癥,非綜合征性口面部裂痕,癲癇和自閉癥。已經(jīng)描述了編碼不同同工型的選擇性剪接的轉(zhuǎn)錄變體。[由RefSeq提供,2013年7月]
國(guó)際國(guó)內(nèi)該堿基基因序列的其他英語文字母簡(jiǎn)稱:
ECA5, EIEE43
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15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:26788693;結(jié)束位置坐標(biāo)為:27018935。該基因序列在GRCh38版本中的起始位置坐標(biāo)為:26543546;結(jié)束位置坐標(biāo)為:26773788。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
Transporters/Transporter channels and pores
基因解碼對(duì)該基因的功能分類:中文版
轉(zhuǎn)運(yùn)體/轉(zhuǎn)運(yùn)體通道和孔
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):
正在通過基因解碼技術(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)庫的更新內(nèi)容
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(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)庫的更新內(nèi)容
該基因序列變化后增加的疾病風(fēng)險(xiǎn)(國(guó)際版):
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; Isodicentric Chromosome 15 Syndrome; Sleep Initiation and Maintenance Disorders; Angelman Syndrome; Atypical absence seizure; EEG with focal sharp slow waves; Lennox-Gastaut syndrome; EPILEPSY, CHILDHOOD ABSENCE, 1; Brainstem abnormalities; Personality Disorders; Hypertonic seizures; Epileptic drop attack; Hypotonic seizures; Autistic behavior; Absence Epilepsy; Mental deterioration; Encephalopathies; Tonic - clonic seizures; Aggressive behavior; Aggressive reaction; Autism Spectrum Disorders; Physical aggression; Myoclonus; Hyperactive behavior; Craniofacial Abnormalities; Mental Depression; Autistic Disorder; Alcoholic Intoxication, Chronic; Depressive disorder; Bipolar Disorder; Epilepsy; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Schizophrenia
如果該基因突變后,風(fēng)險(xiǎn)可能增加的疾病類型(中文版):
癲癇癥童年缺席易感2型; 15 號(hào)染色體等雙著絲粒綜合征;睡眠啟動(dòng)和維持障礙;天使綜合癥;非典型失神發(fā)作;腦電圖伴有局灶性尖銳慢波; Lennox-Gastaut 綜合征;癲癇兒童缺失2型;腦干異常;人格障礙;高滲性癲癇發(fā)作;癲癇發(fā)作;低滲性癲癇發(fā)作;自閉癥行為;失神性癲癇;精神衰退;腦病;強(qiáng)直 - 陣攣發(fā)作;攻擊性行為;攻擊性反應(yīng);自閉癥譜系障礙;身體攻擊;肌陣攣;多動(dòng)行為;顱面異常;精神抑郁癥;自閉癥;酒精中毒慢性;抑郁癥;躁郁癥;癲癇;智力遲鈍;智力低下;智力低下;精神缺陷;學(xué)習(xí)成績(jī)差;智力殘疾;精神分裂癥
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):
Longevity
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):
長(zhǎng)壽
以該基因做靶點(diǎn)的藥物(國(guó)際版):
Temazepam (Gaba-gated chloride ion channel activity);Adinazolam (Gaba-gated chloride ion channel activity);Piperazine (Gaba-gated chloride ion channel activity);Ivermectin (Gaba-gated chloride ion channel activity);Midazolam (Gaba-gated chloride ion channel activity);Flurazepam (Gaba-gated chloride ion channel activity);Halazepam (Gaba-gated chloride ion channel activity);Propofol (Gaba-gated chloride ion channel activity);Diazepam (Gaba-gated chloride ion channel activity);Oxazepam (Gaba-gated chloride ion channel activity);Triazolam (Gaba-gated chloride ion channel activity);Ethanol (Gaba-gated chloride ion channel activity);Estazolam (Gaba-gated chloride ion channel activity);Bromazepam (Gaba-gated chloride ion channel activity);Clotiazepam (Gaba-gated chloride ion channel activity);Fludiazepam (Gaba-gated chloride ion channel activity);Prazepam (Gaba-gated chloride ion channel activity);Quazepam (Gaba-gated chloride ion channel activity);Cinolazepam (Gaba-gated chloride ion channel activity);Nitrazepam (Gaba-gated chloride ion channel activity);Fospropofol (Gaba-gated chloride ion channel activity)
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):
替馬西泮(Gaba-門控氯離子通道活性);阿地那唑侖(Gaba-門控氯離子通道活性);哌嗪(Gaba-門控氯離子通道活性);伊維菌素(Gaba-門控氯離子通道活性);咪達(dá)唑侖(Gaba-門控氯離子通道)離子通道活性);氟拉西泮(Gaba-門控氯離子通道活性);哈拉西泮(Gaba-門控氯離子通道活性);異丙酚(Gaba-門控氯離子通道活性);地西泮(Gaba-門控氯離子通道活性);奧沙西泮(Gaba-門控氯離子通道活性);三唑侖(Gaba-門控氯離子通道活性);乙醇(Gaba-門控氯離子通道活性);艾司唑侖(Gaba-門控氯離子通道活性);溴西泮(Gaba-門控氯離子通道通道活性);氯噻西泮(Gaba-門控氯離子通道活性);氟地西泮(Gaba-門控氯離子通道活性);Prazepam(Gaba-門控氯離子通道活性);Quazepam(Gaba-門控氯離子通道活性);Cinolazepam( Gaba-門控氯離子通道活性);硝西泮(Gaba-門控氯離子通道活性);磷丙泊酚(Gaba-門控氯離子通道活性)
(責(zé)任編輯:佳學(xué)基因)