【佳學(xué)基因檢測(cè)】NR0B1基因間序列存在突變是否需要阻斷遺傳?
基因檢測(cè)的序列名稱:
NR0B1
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:
190
人體基因序列數(shù)據(jù)庫(kù)中國(guó)際交流名稱全稱
nuclear receptor subfamily 0 group B member 1
中國(guó)數(shù)據(jù)庫(kù)中基因全稱:核受體亞家族0 B組成員1基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介
This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]
基因突變所影響的基因信息
該基因編碼包含DNA結(jié)合域的蛋白質(zhì)。編碼的蛋白充當(dāng)由視黃酸受體介導(dǎo)的轉(zhuǎn)錄的顯性負(fù)調(diào)節(jié)劑。該蛋白還通過對(duì)抗Sry發(fā)揮抗睪丸基因的功能。該基因的突變會(huì)導(dǎo)致X連鎖先天性腎上腺皮質(zhì)發(fā)育不全和性腺功能低下性腺功能減退。[由RefSeq提供,2008年7月]
國(guó)際國(guó)內(nèi)該堿基因序列的其他英語文字母簡(jiǎn)稱:
AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG, NROB1, SRXY2
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,獲得及明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:30322539;結(jié)束位置坐標(biāo)為:30327495。該基因序列在GRCh38版本中的起始位置坐標(biāo)為:30304422;結(jié)束位置坐標(biāo)為:30309399。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
Nuclear receptors;Transcription factors/Zinc-coordinating DNA-binding domains
基因解碼對(duì)該基因的功能分類:中文版
核受體;轉(zhuǎn)錄因子/鋅配位 DNA 結(jié)合域
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(Enhanced)Microtubule organizing center;Vesicles(Supported)
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)微管組織中心;囊泡
該基因序列變化后增加的疾病風(fēng)險(xiǎn)(國(guó)際版):
DOSAGE-SENSITIVE SEX REVERSAL; Congenital hypoplasia of adrenal gland; Swyer Syndrome; Abnormality of the labia; Abnormality of the scrotum; Testicular dysgenesis; Testicular regression syndrome; Sex reversal; Abnormal sex determination; Adrenal hypoplasia; Hypoaldosteronism; Low to undetectable plasma cortisol; Mineralocorticoid insufficiency; Small adrenal gland; Female external genitalia in males; Elevated luteinizing hormone; Hypoplasia of vagina; Rudimentary vagina; Elevated follicle stimulating hormone; Streak ovary; Urogenital sinus anomaly; Absence of pubertal development; Sclerocystic Ovaries; Renal salt wasting; Gonadal Dysgenesis, Mixed; Male Pseudohermaphroditism; Pure gonadal dysgenesis; Decreased fertility in females; Gonadal Dysgenesis; Low serum estradiol levels; Ambiguous Genitalia; Hyponatremia; Decreased testosterone in males; Sparse axillary hair; Sparse pubic hair; Azoospermia; Hyperpigmentation; Primary hypogonadism; Muscle biopsy shows dystrophic changes; Dehydration; Hypertrophy of clitoris; Muscular Dystrophy; Primary physiologic amenorrhea; Gynecomastia; Male infertility; Hypogonadism, Isolated Hypogonadotropic; Hypogonadotropic hypogonadism; Small testicle; Delayed Puberty; Penile hypospadias; X- linked recessive; Polycystic Ovary Syndrome; Osteoporosis; Congenital hypoplasia of penis; Cryptorchidism; Failure to gain weight; Pediatric failure to thrive; 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):
劑量敏感的性逆轉(zhuǎn);先天性腎上腺發(fā)育不全;斯維爾綜合癥;陰唇異常;陰囊異常;睪丸發(fā)育不全;睪丸退化綜合征;性反轉(zhuǎn);性別決定異常;腎上腺發(fā)育不全;低醛固酮癥;血漿皮質(zhì)醇低至檢測(cè)不到;鹽皮質(zhì)激素不足;小腎上腺;男性的女性外生殖器;黃體生成素升高;陰道發(fā)育不全;不完整的陰道;卵泡刺激素升高;條紋卵巢;泌尿生殖竇異常;缺乏青春期發(fā)育;硬囊性卵巢;腎性鹽浪費(fèi);性腺發(fā)育不全混合;男性假兩性畸形;純性腺發(fā)育不全;女性生育能力下降;性腺發(fā)育不全;低血清雌二醇水平;不明確的生殖器;低鈉血癥;男性睪丸激素減少;稀疏的腋毛;陰毛稀疏;無精子癥;色素沉著過度;原發(fā)性性腺功能減退癥;肌肉活檢顯示營(yíng)養(yǎng)不良性改變;脫水;陰蒂肥大;肌營(yíng)養(yǎng)不良癥;原發(fā)性生理性閉經(jīng);男性乳房發(fā)育癥;男性不育癥;性腺功能減退癥孤立性低促性腺激素;低促性腺激素性腺機(jī)能減退癥;小睪丸;青春期延遲;陰莖尿道下裂; X連鎖隱性;多囊卵巢綜合征;骨質(zhì)疏松癥;先天性陰莖發(fā)育不全;隱睪;未能增加體重;兒科發(fā)育不良;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,獲得及明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,獲得及明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):
Tretinoin (Transcription factor binding);Dexamethasone (Transcription factor binding)
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):
維甲酸(轉(zhuǎn)錄因子結(jié)合);地塞米松(轉(zhuǎn)錄因子結(jié)合)
(責(zé)任編輯:佳學(xué)基因)