【佳學(xué)基因檢測(cè)】看基因測(cè)試報(bào)告前,需要諳熟于心的ERCC8知識(shí)
基因檢測(cè)的序列名稱:
ERCC8
人體基因序列變化與疾病表征數(shù)據(jù)庫(kù)中的基因代碼:
1161
人體基因序列數(shù)據(jù)庫(kù)中國(guó)際交流名稱全稱
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
中國(guó)數(shù)據(jù)庫(kù)中基因全稱:
ERCC切除修復(fù)8,CSA泛素連接酶復(fù)合物亞基
基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介
This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
基因突變所影響的基因信息
該基因編碼一個(gè)WD重復(fù)蛋白,該蛋白與Cockayne綜合征B型(CSB)蛋白和p44蛋白(RNA聚合酶II轉(zhuǎn)錄因子IIH的一個(gè)亞基)相互作用。已經(jīng)在患有遺傳性克氏綜合征(CS)的患者中鑒定出該基因的突變。CS細(xì)胞對(duì)紫外線異常敏感,并且在轉(zhuǎn)錄活性基因的修復(fù)中存在缺陷。已經(jīng)發(fā)現(xiàn)該基因的幾種編碼不同同工型的轉(zhuǎn)錄物變體。[由RefSeq提供,2014年3月]
國(guó)際國(guó)內(nèi)該堿基基因序列的其他英語(yǔ)文字母簡(jiǎn)稱:
CKN1, CSA, UVSS2
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5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:60169659;結(jié)束位置坐標(biāo)為:60240905。該基因序列在GRCh38版本中的起始位置坐標(biāo)為:60873832;結(jié)束位置坐標(biāo)為:60945078。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
正在通過(guò)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(kù)的更新內(nèi)容
基因解碼對(duì)該基因的功能分類:中文版
正在通過(guò)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(kù)的更新內(nèi)容
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):
Nuclear speckles
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):
核斑點(diǎn)
該基因序列變化后增加的疾病風(fēng)險(xiǎn)(國(guó)際版):
Thymic hormone decreased; UV-SENSITIVE SYNDROME 2; Cockayne Syndrome; Cockayne Syndrome, Type III; Hydrocephalus, Normal Pressure; Patchy demyelination of subcortical white matter; Square pelvis; Cockayne Syndrome, Type I; Cockayne Syndrome, Type II; Increased cellular sensitivity to UV light; Lacrimation decreased; Peripheral dysmyelination; Sclerotic ivory phalangeal epiphyses; Slender nose; Loss of facial adipose tissue; Irregular periods; Abnormal auditory evoked potential; Dry hair; Tooth hypoplasia; Salt and pepper retinal pigmentation; Hypoplastic pelvis; Wizened face; Delayed eruption of primary teeth; Decreased subcutaneous adipose tissue; Anhidrosis; Basal ganglia calcification; Severe postnatal growth retardation; Increased thickness of cranium; Thickened calvaria; Hypoplastic iliac wing; Abnormal pigmentation; Abnormal visual evoked potential; Cloudy cornea; Corneal stromal opacities; Freckles; Polyneuropathy; Auricular malformation; Simple ear; Decreased nerve conduction velocity; Hyperopia; Decreased joint mobility; Photosensitivity of skin; Angle class 2 malocclusion; Angle class 3 malocclusion; Malocclusion; Sparse hair; Thin, sparse hair; Atypical scarring of skin; Decreased size of teeth; Dental caries; Rotting teeth; Dry skin; Kidney Failure; Renal failure in adulthood; Xerosis; Class III malocclusion; Hypertrophy of lower jaw; Increased size of mandible; Mandibular hyperplasia; mandibular excess (physical finding); Dementia; Cardiac conduction abnormalities; EKG abnormalities; Electrocardiogram change; Conduction disorder of the heart; Electrocardiogram abnormal; Renal Insufficiency; Supratentorial atrophy; Cardiac Arrhythmia; Degenerative brain disorder; Tremor; Hyperkyphosis; Kyphosis deformity of spine; Hypogonadism; Proteinuria; Increase in blood pressure; Peripheral Neuropathy; Gait abnormality; Infant, Small for Gestational Age; Intrauterine retardation; Retinitis Pigmentosa; Congenital hypoplasia of penis; Muscle Weakness; Cerebral atrophy; Fetal Growth Retardation; Splenomegaly; Dysarthria; Optic Atrophy; Lens Opacities; Infantile onset; Cataract; Cerebellar Ataxia; Hepatomegaly; Cryptorchidism; Strabismus; Sensorineural Hearing Loss (disorder); Hypertensive disease; Nystagmus; Small head; Epilepsy; Seizures; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; 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):
胸腺激素減少;紫外線敏感綜合癥 2型;科凱恩綜合癥; Cockayne 綜合征III 型;腦積水正常壓力;皮層下白質(zhì)斑片狀脫髓鞘;方形骨盆; Cockayne 綜合癥I 型; Cockayne 綜合癥II 型;增加細(xì)胞對(duì)紫外線的敏感性;流淚減少;外周髓鞘發(fā)育不良;硬化象牙指骨骨骺;細(xì)長(zhǎng)的鼻子;面部脂肪組織流失;月經(jīng)不規(guī)律;聽覺誘發(fā)電位異常;頭發(fā)干燥;牙齒發(fā)育不全;鹽和胡椒視網(wǎng)膜色素沉著;骨盆發(fā)育不良;干癟的臉;乳牙延遲萌出;皮下脂肪組織減少;無(wú)汗癥;基底神經(jīng)節(jié)鈣化;嚴(yán)重的產(chǎn)后發(fā)育遲緩;顱骨厚度增加;加厚的顱骨;發(fā)育不全的髂翼;色素沉著異常;視覺誘發(fā)電位異常;多云角膜;角膜基質(zhì)混濁;雀斑;多發(fā)性神經(jīng)病;耳廓畸形;簡(jiǎn)單的耳朵;神經(jīng)傳導(dǎo)速度降低;遠(yuǎn)視;關(guān)節(jié)活動(dòng)度下降;皮膚光敏性;角度 2 級(jí)錯(cuò)牙合;角度 3 級(jí)錯(cuò)牙合;咬合不正;稀疏的頭發(fā);稀疏的頭發(fā);非典型皮膚疤痕;牙齒變小;齲齒;蛀牙;皮膚干燥;腎功能衰竭;成年期腎功能衰竭;干燥癥; III 類咬合不正;下頜肥大;下頜骨增大;下頜骨增生;下頜過(guò)長(zhǎng)(物理發(fā)現(xiàn));失智;心臟傳導(dǎo)異常;心電圖異常;心電圖改變;心臟傳導(dǎo)障礙;心電圖異常;腎功能不全;幕上萎縮;心律失常;退化性腦??;震顫;脊柱后凸;脊柱后凸畸形;性腺機(jī)能減退;蛋白尿;血壓升高;周圍神經(jīng)病變;步態(tài)異常;嬰兒小于胎齡兒;宮內(nèi)發(fā)育遲緩;色素性視網(wǎng)膜炎;先天性陰莖發(fā)育不全;肌肉無(wú)力;腦萎縮;胎兒生長(zhǎng)遲緩;脾腫大;構(gòu)音障礙;視神經(jīng)萎縮;晶狀體混濁;嬰兒期發(fā)?。?a href='http://vigrxplusreviewsreal.com/cp/jiancejiemaliebiao/2018/812.html' target='_blank'>白內(nèi)障;小腦性共濟(jì)失調(diào);肝腫大;隱睪;斜視;感音神經(jīng)性聽力損失(障礙);高血壓??;眼球震顫;小頭;癲癇;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(jī)差;智力殘疾;常染色體隱性易感性
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):
正在通過(guò)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(kù)的更新內(nèi)容
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):
正在通過(guò)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(kù)的更新內(nèi)容
以該基因做靶點(diǎn)的藥物(國(guó)際版):
正在通過(guò)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(kù)的更新內(nèi)容
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):
正在通過(guò)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(kù)的更新內(nèi)容
(責(zé)任編輯:佳學(xué)基因)