【佳學基因檢測】結婚前發(fā)現(xiàn)男朋友有DHCR7基因突變，是否應當分手？

基因檢測的序列名稱：

DHCR7

人體基因序列變化與疾病表征數(shù)據庫中的基因代碼：

1717

人體基因序列數(shù)據庫中國際交流名稱全稱

7-dehydrocholesterol reductase

中國數(shù)據庫中基因全稱：

7-脫氫膽固醇還原酶

基因檢測報告英文版基因簡介

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]

基因突變所影響的基因信息

該基因編碼一種酶，該酶去除固醇B環(huán)中的C（7-8）雙鍵，并催化7-脫氫膽固醇向膽固醇的轉化。該基因無處不在表達，其跨膜蛋白定位于內質網膜和核外膜。該基因的突變會導致史密斯-萊姆利-奧普茲綜合征（SLOS）；在代謝上以血清膽固醇水平降低和血清7-脫氫膽固醇水平升高為特征的綜合征，在表型上以認知障礙，面部畸形，第二和第三腳趾的綜合癥以及全腦畸形為特征，在嚴重的情況下身體異常和智力幾乎處于正常水平輕度病例。選擇性剪接導致多個轉錄變體編碼相同的蛋白質。[由RefSeq提供，2009年8月]

國際國內該堿基基因序列的其他英語文字母簡稱：

SLOS

基因解碼對該基因序列在細胞核中的染色體所給予的編號：

該基因序列位于人類第11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為：71145457；結束位置坐標為：71159477。該基因序列在GRCh38版本中的起始位置坐標為：71434411；結束位置坐標為：71448431。正確的基因信息定位是基因檢測和對檢測結果進行正確解讀的關鍵。

佳學基因解碼對該基因的功能分類：國際版

Enzymes/ENZYME proteins/Oxidoreductases

基因解碼對該基因的功能分類：中文版

酶/酶蛋白/氧化還原酶

結構與功能基因解碼所揭示的該基因在細胞內發(fā)揮作用的場所（國際版）：

Cytosol;Endoplasmic reticulum

結構與功能基因解碼所揭示的該基因發(fā)揮作用的細胞內位置（中文版）：

胞質溶膠；內質網

該基因序列變化后增加的疾病風險（國際版）：

7-Dehydrocholesterol Reductase Deficiency; Elevated 7-dehydrocholesterol; Severe photosensitivity; Smith-Lemli-Opitz Syndrome; Facial capillary hemangioma; Broad alveolar processes of jaw; Broad alveolar ridges; Cholestatic liver disease; Septate vagina; Gastrointestinal dysmotility; Sleep-wake cycle disturbance; Abnormality of the larynx; Hypocholesterolemia; Increased nuchal translucency; Periventricular neuronal heterotopia; Talipes Calcaneovalgus; Obstruction of pelviureteric junction; Frontal lobe hypoplasia; Tracheal Stenosis; Abnormal lung lobation; Breech Presentation; Microglossia; Overriding toe; Small tongue; Bicornuate uterus; Metabolic Bone Disorder; Fibular polydactyly; Postaxial foot polydactyly; Self-Injurious Behavior; Self Mutilation; Somnolence; Bifid scrotum; Congenital malrotation of intestine; ATRIOVENTRICULAR CANAL DEFECT; Abnormality of the metacarpal bones; Endocardial Cushion Defects; Holoprosencephaly; Proximally placed thumbs; Poor suck; Hammer Toe; Simple syndactyly of toes, first web space; Abnormal dermatoglyphic pattern; Ambiguous Genitalia; Hypoplasia of scrotum; Metatarsus Varus; Toeing-in; Hypoplasia of thumb; Precocious Puberty; Biparietal narrowing; Decreased width of the skull; Stippled epiphyses; Megacolon; Aortic coarctation; Cystic kidney; Renal cyst; Congenital absence of kidney; Dandy-Walker Syndrome; Hypoplastic toes; Congenital hypoplasia of kidney; Cutis marmorata; Gingival Overgrowth; Gingival Hypertrophy; Gingival Hyperplasia; Narrow forehead; Pyloric Stenosis; Generalized hypotonia; Hirschsprung Disease; Hypertrophy of clitoris; Recurrent otitis media; Eczema; Inadequate arch length for tooth size; Tooth Crowding; Tooth mass arch size discrepancy; Tooth size discrepancy; Wide spaced nipples; Ulnar polydactyly of fingers; Congenital hypoplasia of lung; Recurrent infections; Cerebellar hypoplasia and atrophy; Photosensitivity of skin; Reduced fetal movement; Micromelia; Dental abnormalities; Posteriorly rotated ear; Premature birth of newborn; Hydronephrosis; Tooth Abnormalities; Macrostomia; Aggressive behavior; Aggressive reaction; Heartburn; Physical aggression; Premature Birth; Patent ductus arteriosus; Gastroesophageal reflux disease; Polyhydramnios; Atrial Septal Defects; Muscle Hypertonia; Hypoplasia of corpus callosum; Hyperactive behavior; Penile hypospadias; Low-set, posteriorly rotated ears; Hydrocephalus; Vomiting; Attention deficit hyperactivity disorder; Ventricular Septal Defects; Dilated ventricles (finding); Long philtrum; Dyschezia; Liver Cirrhosis; Short neck; Constipation; Uranostaphyloschisis; Feeding difficulties in infancy; Infant, Small for Gestational Age; Intrauterine retardation; Congenital Epicanthus; Congenital hypoplasia of penis; Low set ears; Congenital deafness; Fetal Growth Retardation; Hearing Loss, Partial; Anteverted nostril; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Deafness; Cleft Palate; hearing impairment; Lens Opacities; Broad flat nasal bridge; Nasal bridge wide; Blepharoptosis; Cataract; Orbital separation excessive; Cryptorchidism; Strabismus; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Autistic Disorder; Nystagmus; Failure to gain weight; Pediatric failure to thrive; Small head; Short stature; Epilepsy; Muscle hypotonia; Seizures; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Autosomal recessive predisposition

如果該基因突變后，風險可能增加的疾病類型（中文版）：

7-脫氫膽固醇還原酶缺乏癥；升高的 7-脫氫膽固醇；嚴重的光敏性； Smith-Lemli-Opitz 綜合癥；面部毛細血管瘤；寬闊的下頜牙槽突；寬闊的牙槽嵴；膽汁淤積性肝??；隔膜陰道;胃腸動力障礙;睡眠-覺醒周期障礙；喉部異常;低膽固醇血癥;增加頸部半透明層；腦室周圍神經元異位；跟骨馬蹄足；腎盂輸尿管連接處阻塞；額葉發(fā)育不全;氣管狹窄；肺分葉異常；臀位展示；小舌頭；壓倒腳趾；小舌頭；雙角子宮；代謝性骨??；腓骨多指；后軸足多指；自殘行為；自殘；嗜睡；雙歧陰囊;先天性腸旋轉不良；房室管缺陷；掌骨異常;心內膜墊缺損；全腦畸形；拇指放在近端；吸力差；錘狀趾;簡單的腳趾并指先進個網頁空間；異常的皮紋圖案；不明確的生殖器；陰囊發(fā)育不全;跖骨內翻；前束；拇指發(fā)育不全；性早熟；雙頂骨變窄；顱骨寬度減??；點狀骨骺；巨結腸;主動脈縮窄；囊性腎;腎囊腫；先天性無腎；花花公子沃克綜合癥；發(fā)育不良的腳趾；先天性腎發(fā)育不全；橘皮；牙齦增生；牙齦肥大；牙齦增生；額頭窄；幽門狹窄；廣泛性肌張力減退；先天性巨結腸癥；陰蒂肥大;反復性中耳炎；濕疹;牙齒尺寸的牙弓長度不足；牙齒擁擠；牙弓大小不一致；牙齒大小不一致；寬間距乳頭；手指尺骨多指；先天性肺發(fā)育不全；反復感染；小腦發(fā)育不全和萎縮；皮膚光敏性；胎動減少；小梅利亞；牙齒異常；向后旋轉的耳朵；新生兒早產；腎積水;牙齒異常；巨口癥；攻擊性行為；攻擊性反應；胃灼熱;身體攻擊；早產；動脈導管未閉；胃食管反流病;羊水過多;房間隔缺損；肌肉張力亢進；胼胝體發(fā)育不全；多動行為；陰莖尿道下裂;位置低、向后旋轉的耳朵；腦積水;嘔吐；注意力缺陷多動障礙；室間隔缺損；擴張的心室（發(fā)現(xiàn)）；長人中；排便困難；肝硬化；脖子短；便秘; Uranostaphyloschisis;嬰兒喂養(yǎng)困難；嬰兒小于胎齡兒；宮內發(fā)育遲緩;先天性內眥贅皮；先天性陰莖發(fā)育不全；低位耳朵；先天性耳聾；胎兒生長遲緩；部分聽力損失；鼻孔前傾；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；耳聾；腭裂；聽力受損;晶狀體混濁；寬扁的鼻梁；鼻梁寬；上瞼下垂；白內障;軌道分離過度；隱睪;斜視；發(fā)育不全的下頜骨髁；下頜發(fā)育不全;小頜畸形；自閉癥；眼球震顫；未能增加體重；兒科發(fā)育不良；小頭;身材矮??；癲癇;肌肉張力減退；癲癇發(fā)作；認知延遲；整體發(fā)育遲緩；智力和運動遲緩；智力遲鈍；智力低下；智力低下；精神缺陷；學習成績差；智力殘疾;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聯(lián)（國際版）：

正在通過基因解碼技術進行收集、查證并編輯，請關注佳學基因，獲得及時更新的人類基因序列變化與疾病表征數(shù)據庫的更新內容

GWAS基因檢測所解碼的該基因突變會增加風險的疾病種類（中文版）：

正在通過基因解碼技術進行收集、查證并編輯，請關注佳學基因，獲得及時更新的人類基因序列變化與疾病表征數(shù)據庫的更新內容

以該基因做靶點的藥物（國際版）：

NADH (7-dehydrocholesterol reductase activity)

針對該基因所產生的突變，可能有正確效果的藥物（中文版）：

NADH（7-脫氫膽固醇還原酶活性）