【佳學(xué)基因檢測(cè)】病案記錄中關(guān)于CHRNA3不能錯(cuò)的內(nèi)容

基因檢測(cè)的序列名稱：

CHRNA3

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：

1136

人體基因序列數(shù)據(jù)庫(kù)中國(guó)際交流名稱全稱

cholinergic receptor nicotinic alpha 3 subunit

中國(guó)數(shù)據(jù)庫(kù)中基因全稱：

膽堿能受體煙堿α3亞基

基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介

This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described.

基因突變所影響的基因信息

該基因座編碼煙堿型乙酰膽堿受體蛋白質(zhì)家族的成員。該蛋白質(zhì)家族的成員形成由α和β亞基組成的五聚體復(fù)合物。該基因座編碼一個(gè)alpha型亞基，因?yàn)樗刑卣餍缘南噜彴腚装彼釟埢?。編碼的蛋白是配體門控離子通道，可能在神經(jīng)傳遞中起作用。該基因的多態(tài)性與吸煙開(kāi)始的風(fēng)險(xiǎn)增加和對(duì)肺癌的敏感性增加有關(guān)?；驒z測(cè)數(shù)據(jù)庫(kù)收錄了該基因在不同的組織器官中的不同形式。

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：

LNCR2, NACHRA3, PAOD2

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15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：78885394；結(jié)束位置坐標(biāo)為：78913637。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：78593052；結(jié)束位置坐標(biāo)為：78621295。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

The CHRNA3 gene encodes the alpha-3 subunit of the nicotinic acetylcholine receptor (nAChR), which is a protein involved in neurotransmission. The nAChRs are ion channels found on the surface of nerve cells that are activated by the neurotransmitter acetylcholine. Variations in the CHRNA3 gene have been associated with various health conditions and traits. One of the most well-known associations is with nicotine dependence and smoking behavior. Certain genetic variants of CHRNA3 have been found to increase the risk of developing nicotine addiction and make it more difficult for individuals to quit smoking. Research has also suggested links between CHRNA3 variants and other conditions, such as chronic obstructive pulmonary disease (COPD), lung cancer, and alcohol dependence. However, it's important to note that genetic variations in CHRNA3 are just one of several factors that contribute to these complex traits and diseases. Environmental and lifestyle factors also play significant roles. It's worth mentioning that scientific research is an ongoing process, and new discoveries can emerge that may further enhance our understanding of the CHRNA3 gene and its implications.

基因解碼對(duì)該基因的功能分類：中文版

佳學(xué)基因采用基因解碼技術(shù)以獲得CHRNA3的功能信息。發(fā)現(xiàn)CHRNA3在人體組織中部分與CHRNA5（118505）共表達(dá)。 轉(zhuǎn)運(yùn)體門控陽(yáng)離子通道是神經(jīng)系統(tǒng)突觸中對(duì)興奮性化學(xué)信號(hào)的檢測(cè)器。結(jié)構(gòu)基因解碼表明，結(jié)構(gòu)上不同的α-3-β-4尼古丁酸受體和P2X(2)（600844）通道在共同激活時(shí)會(huì)相互影響。一個(gè)通道類型的激活會(huì)影響另一個(gè)通道類型的不同動(dòng)力學(xué)和傳導(dǎo)狀態(tài)，共同激活會(huì)導(dǎo)致非線性響應(yīng)，因?yàn)閮煞N通道類型都受到抑制。通過(guò)使用突變的P2X(2)通道，研究揭示了尼古丁酸受體通道的狀態(tài)依賴性抑制，抑制在較低的通道表達(dá)密度下減少。在突觸耦合的肌間神經(jīng)元中，當(dāng)內(nèi)源共表達(dá)的P2X通道激活時(shí)，尼古丁酸快速興奮性突觸后電流被遮擋?；蚪獯a的數(shù)據(jù)為轉(zhuǎn)運(yùn)體門控通道之間的交叉抑制提供了分子基礎(chǔ)和突觸背景?；蚪獯a通過(guò)藥理學(xué)、分子遺傳學(xué)、電生理學(xué)和飼養(yǎng)研究的結(jié)合，發(fā)現(xiàn)下丘腦α-3-β-4（118509）尼古丁酸受體的激活會(huì)導(dǎo)致前促黑素瘤細(xì)胞（POMC；176830）神經(jīng)元的激活。POMC神經(jīng)元和隨后的黑素細(xì)胞-4受體（MC4R；155541）的激活對(duì)尼古丁誘導(dǎo)的小鼠食物攝入減少至關(guān)重要。佳學(xué)基因解碼的研究證明尼古丁通過(guò)影響下丘腦黑素系統(tǒng)來(lái)減少食物攝入和體重，并確定了與尼古丁誘導(dǎo)的食欲減少相關(guān)的關(guān)鍵分子和突觸機(jī)制。 

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）：

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）：

該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國(guó)際版）：

Tobacco Use Disorder; TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding); Cocaine Dependence; Lung Neoplasms; Alcoholic Intoxication, Chronic; Seizures; Schizophrenia

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

煙草使用障礙；煙草成癮易感（發(fā)現(xiàn)）；可卡因依賴；肺腫瘤；酒精中毒慢性；癲癇發(fā)作；精神分裂癥

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）：

Lung Neoplasms;Smoking;Tobacco Use Disorder;Respiratory Function Tests

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）：

肺腫瘤；吸煙；煙草使用障礙；呼吸功能測(cè)試

以該基因做靶點(diǎn)的藥物（國(guó)際版）：

Nicotine (Ligand-gated ion channel activity);Dextromethorphan (Ligand-gated ion channel activity);Galantamine (Ligand-gated ion channel activity);Levamisole (Ligand-gated ion channel activity);Ethanol (Ligand-gated ion channel activity);Pentolinium (Ligand-gated ion channel activity);Bupropion (Ligand-gated ion channel activity);Levomethadyl Acetate (Ligand-gated ion channel activity);Varenicline (Ligand-gated ion channel activity);Cytisine (Ligand-gated ion channel activity)

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）：

尼古?。ㄅ潴w門控離子通道活性）；右美沙芬（配體門控離子通道活性）；加蘭他敏（配體門控離子通道活性）；左旋咪唑（配體門控離子通道活性）；乙醇（配體門控離子通道活性）； Pentolinium（配體門控離子通道活性）；安非他酮（配體門控離子通道活性）；Levomethadyl Acetate（配體門控離子通道活性）；Varenicline（配體門控離子通道活性）；金雀花堿（配體門控離子通道活性）