【佳學(xué)基因檢測】爸爸基因評(píng)估分析發(fā)現(xiàn)GATA4突變，我需要做檢測嗎？

基因檢測的序列名稱：

GATA4

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

2626

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

GATA binding protein 4

中國數(shù)據(jù)庫中基因全稱：

GATA結(jié)合蛋白4

基因檢測報(bào)告英文版基因簡介

This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

基因突變所影響的基因信息

該基因編碼鋅指轉(zhuǎn)錄因子的GATA家族的成員。該家族的成員認(rèn)識(shí)到存在于許多基因啟動(dòng)子中的GATA基序。該蛋白被認(rèn)為可調(diào)節(jié)與胚胎發(fā)生，心肌分化和功能有關(guān)的基因，并且對(duì)于正常睪丸發(fā)育是必需的。該基因的突變與心臟間隔缺損有關(guān)。另外，基因表達(dá)的改變與幾種癌癥類型有關(guān)。選擇性剪接導(dǎo)致多個(gè)轉(zhuǎn)錄物變體。[由RefSeq提供，2015年4月]

國際國內(nèi)該堿基基因序列的其他英語文字母簡稱：

ASD2, TACHD, TOF, VSD1

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8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：11534433；結(jié)束位置坐標(biāo)為：11617510。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：11676919；結(jié)束位置坐標(biāo)為：11760002。正確的基因信息定位是基因檢測和對(duì)檢測結(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：國際版

Transcription factors/Zinc-coordinating DNA-binding domains

基因解碼對(duì)該基因的功能分類：中文版

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)揮作用的場所（國際版）：

Nuclear bodies

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）：

核體

該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國際版）：

ATRIOVENTRICULAR SEPTAL DEFECT 4; Atrial septal defect 2; Chromosome 8, monosomy 8p23 1; TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE; VENTRICULAR SEPTAL DEFECT 1; Ostium primum atrial septal defect; Hypospadias, perineal; Partial atrioventricular canal; Small penis; Abnormality of the labia; Abnormality of the scrotum; Ostium secundum atrial septal defect; Testicular dysgenesis; Testicular regression syndrome; Abnormal sex determination; Female external genitalia in males; Elevated luteinizing hormone; Hypoplasia of vagina; Rudimentary vagina; Elevated follicle stimulating hormone; Streak ovary; Urogenital sinus anomaly; Abnormal nasal morphology; ATRIOVENTRICULAR CANAL DEFECT; Endocardial Cushion Defects; Enlarged thorax; Gonadal Dysgenesis, Mixed; Pure gonadal dysgenesis; Decreased fertility in females; Gonadal Dysgenesis; Pulmonary artery stenosis; ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder); Low serum estradiol levels; Ambiguous Genitalia; Tapering fingers (finding); Preauricular dimple; Preauricular sinus; Biparietal narrowing; Decreased testosterone in males; Decreased width of the skull; Preauricular Fistulae, Congenital; Sparse axillary hair; Sparse pubic hair; Azoospermia; Primary hypogonadism; Malformed pinnae; Poor speech; Problems speaking; Congenital diaphragmatic hernia; Underdeveloped brows; Underdeveloped supraorbital ridges; Hypertrophy of clitoris; Diaphragmatic Hernia; Tetralogy of Fallot; Wide spaced nipples; Thin lips; Primary physiologic amenorrhea; Gynecomastia; Broad forehead; Male infertility; Mild Mental Retardation; Small testicle; Long narrow head; Narrow cranium shape; Narrow head shape; Narrow skull shape; Turridolichocephaly; Atrial Septal Defects; Delayed Puberty; Exophthalmos; Prominent eyes; Prominent globes; Protruding eyes; High forehead; Tall forehead; Weight decreased; Myocardial Infarction; Penile hypospadias; Bilateral fifth finger clinodactyly; Curvature of little finger; Cardiomegaly; Attention deficit hyperactivity disorder; Ventricular Septal Defects; Brachydactyly; Short nose; Small nose; Short neck; Osteoporosis; Infant, Small for Gestational Age; Intrauterine retardation; Congenital Epicanthus; Congenital hypoplasia of penis; Low set ears; Fetal Growth Retardation; Byzanthine arch palate; Colorectal Neoplasms; Broad flat nasal bridge; Nasal bridge wide; Cryptorchidism; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Alcoholic Intoxication, Chronic; Small head; Short stature; Epilepsy; Seizures; Cognitive delay; Global developmental delay; Mental and motor retardation

如果該基因突變后，風(fēng)險(xiǎn)可能增加的疾病類型（中文版）：

房室間隔缺損 2型；房間隔缺損 2型； 8號(hào)染色體單體8p23 2型；伴有或不伴有先天性心臟病的睪丸異常；室間隔缺損 2型；原發(fā)孔房間隔缺損；尿道下裂會(huì)陰;部分房室管；小陰莖；陰唇異常；陰囊異常;繼發(fā)孔房間隔缺損；睪丸發(fā)育不全;睪丸退化綜合征；性別決定異常；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；鼻腔形態(tài)異常；房室管缺陷；心內(nèi)膜墊缺損；胸部擴(kuò)大；性腺發(fā)育不全混合；純性腺發(fā)育不全；女性生育能力下降；性腺發(fā)育不全；肺動(dòng)脈狹窄；家族性心房顫動(dòng)1（紊亂）；低血清雌二醇水平；不明確的生殖器；逐漸變細(xì)的手指（發(fā)現(xiàn)）；耳前酒窩;耳前竇;雙頂骨變窄；男性睪丸激素減少;顱骨寬度減?。?a href='http://www.lucasfraser.com/cp/chabiyin/' target='_blank'>先天性耳前瘺；稀疏的腋毛；陰毛稀疏；無精子癥；原發(fā)性性腺功能減退癥；畸形耳廓；口齒不清；說話有問題；先天性膈疝;眉毛不發(fā)達(dá)；眶上脊發(fā)育不全；陰蒂肥大;膈疝;法洛四聯(lián)癥；寬間距乳頭；薄嘴唇;原發(fā)性生理性閉經(jīng)；男性乳房發(fā)育癥;額頭寬闊；男性不育癥；輕度智力低下；小睪丸；長而窄的頭；狹窄的顱骨形狀；窄頭型；狹窄的顱骨形狀； Turridolicochephaly;房間隔缺損；青春期延遲；眼球突出；突出的眼睛;突出的地球儀；突出的眼睛;高額頭;額頭高；體重下降；心肌梗塞；陰莖尿道下裂;雙側(cè)小指彎曲；小指彎曲；心臟肥大；注意力缺陷多動(dòng)障礙；室間隔缺損；短指；鼻子短；小鼻子;脖子短；骨質(zhì)疏松癥；嬰兒小于胎齡兒；宮內(nèi)發(fā)育遲緩;先天性內(nèi)眥贅皮；先天性陰莖發(fā)育不全；低位耳朵；胎兒生長遲緩；拜占庭拱形上顎；結(jié)直腸腫瘤；寬扁的鼻梁；鼻梁寬；隱睪;發(fā)育不全的下頜骨髁；下頜發(fā)育不全;小頜畸形；酒精中毒慢性；小頭;身材矮?。?a href='http://www.lucasfraser.com/cp/chabiyin/shenjin/2023/40917.html' target='_blank'>癲癇;癲癇發(fā)作；認(rèn)知延遲；整體發(fā)育遲緩；智力和運(yùn)動(dòng)發(fā)育遲緩

GWAS基因檢測所建立的與該基因的疾病關(guān)聯(lián)（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(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

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）：

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

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(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

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