【佳学基因检测】胸外科疾病筛查项目招标为什么要问DPYD的内容

基因检测的序列名称：

DPYD

人体基因序列变化与疾病表征数据库中的基因代码：

1806

人体基因序列数据库中国际交流名称全称

dihydropyrimidine dehydrogenase

中国数据库中基因全称：

二氢嘧啶脱氢酶

基因检测报告英文版基因简介

The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

基因突变所影响的基因信息

该基因编码的蛋白质是嘧啶分解代谢酶，是尿嘧啶和胸苷分解代谢途径中的起始和限速因子。该基因的突变导致二氢嘧啶脱氢酶缺乏症，与胸腺嘧啶尿嘧啶相关的嘧啶代谢错误以及在接受5-氟尿嘧啶化疗的癌症患者中增加的毒性风险。已经为该基因发现了编码不同同工型的两个转录物变体。[由RefSeq提供，2009年5月]

国际国内该碱基基因序列的其他英语文字母简称：

DHP, DHPDHASE, DPD

基因解码对该基因序列在细胞核中的染色体所给予的编号：

该基因序列位于人类第1号染色体上。

基因解码对基因序列的正确定位

该基因序列在GRCh37版本中的起始位置坐标为：97543299；结束位置坐标为：98386615。该基因序列在GRCh38版本中的起始位置坐标为：97077743；结束位置坐标为：97921059。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。

佳学基因解码对该基因的功能分类：国际版

Enzymes/ENZYME proteins/Oxidoreductases

基因解码对该基因的功能分类：中文版

酶/酶蛋白/氧化还原酶

结构与功能基因解码所揭示的该基因在细胞内发挥作用的场所（国际版）：

正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容

结构与功能基因解码所揭示的该基因发挥作用的细胞内位置（中文版）：

正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容

该基因序列变化后增加的疾病风险（国际版）：

Abnormal eating behavior; Purine-Pyrimidine Metabolism, Inborn Errors; Shyness; Dihydropyrimidine Dehydrogenase Deficiency; Long ears; Reduced dihydropyrimidine dehydrogenase activity; Quadriplegia; Language Development Disorders; Neutropenia; Autistic behavior; Astigmatism; Head and Neck Neoplasms; Broad nasal tip; Leukoencephalopathies; Abnormality of vision; Congenital ocular coloboma (disorder); Chubby cheeks; Full cheeks; Hyperplasia of cheeks; Hypertrophy of cheeks; Puffy cheeks; nervous system disorder; Enophthalmos; Sunken eyes; Mild Mental Retardation; Upward slant of palpebral fissure; Autism Spectrum Disorders; Lethargy; Muscle Hypertonia; Pancreatic Neoplasm; Hyperactive behavior; Supratentorial atrophy; Abnormally small eyeball; Decreased size of eyeball; Degenerative brain disorder; Microphthalmos; Growth delay; Growth failure; Growth retardation; Poor growth; Very poor growth; Delayed speech and language development; Language Delay; Speech Delay; Speech impairment; Myopia; Short nose; Small nose; Peripheral Neuropathy; Colonic Neoplasms; Big calvaria; Increased head circumference; Increased size of cranium; Increased size of skull; Motor delay; No development of motor milestones; Highly variable clinical phenotype; Highly variable phenotype and severity; Highly variable phenotype, even within families; Phenotypic variability; Cerebral atrophy; Neoplasm Metastasis; Lung Neoplasms; Optic Atrophy; Colorectal Neoplasms; Liver carcinoma; Obesity; Autistic Disorder; Stomach Neoplasms; Nystagmus; Failure to gain weight; Pediatric failure to thrive; Small head; Mammary Neoplasms; 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; Schizophrenia; Autosomal recessive predisposition

如果该基因突变后，风险可能增加的疾病类型（中文版）：

饮食行为异常；嘌呤-嘧啶代谢先天性错误；害羞；二氢嘧啶脱氢酶缺乏症；长耳朵；二氢嘧啶脱氢酶活性降低；四肢瘫痪；语言发育障碍；中性粒细胞减少症；自闭症行为；散光;头颈肿瘤；宽鼻尖；白质脑病;视力异常；先天性眼部缺损（疾病）；胖嘟嘟的脸颊;饱满的脸颊；脸颊增生;脸颊肥大;浮肿的脸颊；神经系统紊乱；眼球内陷；凹陷的眼睛；轻度智力低下；睑裂向上倾斜；自闭症谱系障碍；昏睡;肌肉张力亢进；胰腺肿瘤；多动行为；幕上萎缩；异常小的眼球；眼球变小；退化性脑病；小眼球;生长延迟；生长失败；生长迟缓；生长不良；生长非常差；言语和语言发育迟缓；语言延迟；语音延迟；言语障碍；近视;鼻子短；小鼻子;周围神经病变；结肠肿瘤；大颅骨;头围增加；颅骨体积增大；颅骨尺寸增大；电机延迟；没有运动里程碑的发展；高度可变的临床表型；高度可变的表型和严重程度；高度可变的表型即使在家庭内部也是如此；表型变异性；脑萎缩；肿瘤转移；肺肿瘤；视神经萎缩；结直肠肿瘤；肝癌；肥胖;自闭症；胃肿瘤；眼球震颤；未能增加体重；儿科发育不良；小头;乳腺肿瘤；癫痫;肌肉张力减退；癫痫发作；认知延迟；整体发育迟缓；智力和运动迟缓；智力迟钝；智力低下；智力低下；精神缺陷；学习成绩差；智力残疾;精神分裂症;常染色体隐性易感性

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

Neutrophils

GWAS基因检测所解码的该基因突变会增加风险的疾病种类（中文版）：

中性粒细胞

以该基因做靶点的药物（国际版）：

(5s)-5-Iododihydro-2,4(1h,3h)-Pyrimidinedione (Protein homodimerization activity);Nadph Dihydro-Nicotinamide-Adenine-Dinucleotidephosphate (Protein homodimerization activity);6-Carboxymethyluracil (Protein homodimerization activity);Flavin adenine dinucleotide (Protein homodimerization activity);Riboflavin Monophosphate (Protein homodimerization activity);Uracil (Protein homodimerization activity);Eniluracil (Protein homodimerization activity);5-Iodouracil (Protein homodimerization activity)

针对该基因所产生的突变，可能有正确效果的药物（中文版）：

(5s)-5-Iododihydro-2,4(1h,3h)-Pyrimidinedione（蛋白质同二聚化活性）；Nadph 二氢-烟酰胺-腺嘌呤-二核苷酸磷酸（蛋白质同二聚化活性）；6-羧甲基尿嘧啶（蛋白质同二聚化活性）；黄素腺嘌呤二核苷酸（蛋白质同二聚化活性）；核黄素单磷酸（蛋白质同二聚化活性）；尿嘧啶（蛋白质同二聚化活性）；恩尿嘧啶（蛋白质同二聚化活性）；5-碘尿嘧啶（蛋白质同二聚化活性）