本文選題：PAH基因突變 + IgG亞型　； 參考：《青島大學》2017年碩士論文

【摘要】：目的通過對威海地區(qū)2013年至2015年出生的69110例新生兒進行篩查,以探討威海地區(qū)新生兒免疫代謝病的發(fā)病情況及與其他省市地區(qū)的差異,重點觀測PAH基因突變的類型及IgG抗體亞型異常與新生兒免疫代謝病相關性。對孕期的用藥指導和確診后的及時有效治療,降低出生缺陷具有重要價值。方法自2013年～2015年期間,共有69110例新生兒在威海出生,并且經(jīng)過家長同意接受新生兒疾病篩查的檢查。通過采用時間分辨熒光技術和串聯(lián)質(zhì)譜技術對這些新生兒的血液樣本進行篩查,回顧性的分析這三年間威海地區(qū)CH(甲狀腺功能減低癥)、PKU(苯丙酮尿癥)、CAH(腎上腺皮質(zhì)增生癥)、G6PD(葡萄糖-6-磷酸脫氫酶缺乏癥)及IMD(遺傳代謝病)的發(fā)病率以及確診患兒的治療情況。同時采用PCR擴增技術對PKU患兒的PAH基因的13個外顯子的擴增產(chǎn)物進行基因測序分析。采用ELISA對2013～2015年來威海市婦幼保健院就診的母親為O型血的354例發(fā)生新生兒溶血病的患兒及其母親血清內(nèi)的IgG亞型進行定量分析,同時利用100例健康的O型孕婦及100例健康的新生兒作為對照。結果1.威海地區(qū)2013-2015年間的年平均篩查率為99.71%,共計確診CH患兒75例,發(fā)病率為1/921;PKU患兒11例,發(fā)病率為1/6283;CAH患兒5例,發(fā)病率為1/13822;G6PD患兒25例,發(fā)病率為1/2764;IMD患兒12例,發(fā)病率為1/2982。2.威海地區(qū)CH的發(fā)病率1/921高于全國的平均發(fā)病率1/3009,差異有統(tǒng)計學意義(P0.01)。3.通過對PKU患兒的基因檢測發(fā)現(xiàn)14種54個基因突變,其中E7為突變高頻區(qū),患兒基因以雜合突變?yōu)橹?PAH基因與新生兒遺傳代謝性疾病PKU密切相關。通過基因手段對患兒及其父母進行檢測,分析相關影響因素,對降低出生缺陷具有重要價值。4.IgG1和IgG3的含量在新生兒溶血病患兒母親血清中明顯高于正常母親組(P0.05),IgG1和IgG3在患兒體內(nèi)的含量也明顯高于健康新生兒組(P0.05)。結論威海地區(qū)新篩篩查率很高,主要是有政府資金的大力支持,實行免費篩查。通過新生兒疾病篩查的檢測手段能夠做到早期發(fā)現(xiàn)、早期治療。威海地區(qū)CH發(fā)病率高與孕期補碘過量關系密切。通過PCR擴增及基因檢測手段對PKU患兒的突變基因進行明確的診斷,發(fā)現(xiàn)高頻突變位點,對以后的PAH基因突變檢測有很好的指導作用,同時可對有再生育需求的家庭進行孕期指導和產(chǎn)前診斷。用ELISA法檢測母體及新生兒體內(nèi)的IgG亞型的含量對新生兒溶血病的診斷以及判斷預后有著重大意義,同時對孕期的臨床用藥也有很好的指導作用,有效的降低出生缺陷。
[Abstract]:Objective to screen 69110 newborns born in Weihai from 2013 to 2015, and to explore the incidence of neonatal immune metabolic disease and its difference from other provinces and cities in Weihai.The type of PAH gene mutation and the abnormality of IgG antibody subtype were observed.It is of great value to guide the use of drugs during pregnancy and timely and effective treatment after diagnosis to reduce birth defects.Methods from 2013 to 2015, a total of 69110 newborns were born in Weihai.Blood samples of these newborns were screened by time-resolved fluorescence and tandem mass spectrometry.The incidence of CH-PKU (phenylketonuria) and the incidence of G6PDand IMD (glucose-6-phosphate dehydrogenase deficiency) in Weihai area during the past three years were analyzed retrospectively.At the same time, 13 exons of PAH gene were sequenced by PCR.The serum IgG subtypes of 354 neonates with hemolytic disease of newborns and their mothers were quantitatively analyzed by ELISA from 2013 to 2015 in Weihai Maternal and Child Health Care Hospital.At the same time, 100 healthy type O pregnant women and 100 healthy newborns were used as control group.Result 1.The average annual screening rate in Weihai area from 2013 to 2015 was 99.71, with a total of 75 cases of confirmed Ch, 11 cases of 1 / 921 PKU, 5 cases of 1 / 6283 cases of CAH, 25 cases of 1 / 1 13822 cases of G6PD and 12 cases of 1 / 2764 IMD, with an incidence of 1 / 2982.2%.The incidence of Ch in Weihai area is 1 / 921 higher than the national average incidence rate of 1 / 3009, the difference is statistically significant.14 kinds of 54 gene mutations were found in children with PKU, of which E7 was the high frequency region of mutation. Heterozygosity was the main gene mutation in children with PKU and PKU was closely related to neonatal metabolic disease.The children and their parents were detected by genetic methods, and the related influencing factors were analyzed.4. The levels of IgG1 and IgG3 in mothers with neonatal hemolytic disease were significantly higher than those in normal mothers. The levels of IgG1 and IgG3 in children with neonatal hemolytic disease were also significantly higher than those in healthy newborns.Conclusion the screening rate of new screen in Weihai area is very high, which is mainly supported by government funds and free screening.Early detection and early treatment can be achieved by means of neonatal disease screening.The high incidence of Ch in Weihai area is closely related to iodine overdose during pregnancy.By means of PCR amplification and gene detection, the mutation genes of children with PKU were clearly diagnosed, and the high frequency mutation sites were found, which could guide the detection of PAH gene mutation in the future.Pregnancy guidance and prenatal diagnosis can also be given to families with reproductive needs.The detection of IgG subtype in mother and newborn by ELISA method is of great significance in the diagnosis and prognosis of hemolytic disease of newborn. It is also a good guide to the clinical use of drugs during pregnancy and can effectively reduce birth defects.
【學位授予單位】：青島大學
【學位級別】：碩士
【學位授予年份】：2017
【分類號】：R722.1

【參考文獻】

相關期刊論文 前10條

1 趙振東;王潔;溫英梅;楊春;劉秀蓮;;2007～2010年海南省新生兒G6PD缺乏癥篩查結果分析[J];中國婦幼保健;2013年33期

2 劉明芳;王紅艷;張燕;劉琰;賈惠東;竇現(xiàn)飛;姜偉;穆強;周云香;;聊城地區(qū)76383例新生兒疾病篩查分析[J];中國優(yōu)生與遺傳雜志;2012年04期

3 趙建華;王澚超;;50年來中國遺傳性代謝病論文文獻分析[J];中國中醫(yī)藥現(xiàn)代遠程教育;2011年07期

4 詹影影;;ABO血型系統(tǒng)診斷新生兒溶血病的實驗研究[J];中國衛(wèi)生檢驗雜志;2010年06期

5 田國力;朱偉明;王燕敏;許洪平;姚靜;;新生兒先天性腎上腺皮質(zhì)增生癥篩查的初步報告[J];檢驗醫(yī)學;2010年02期

6 張紅珊;李文益;;新生兒溶血病診斷和治療[J];中國小兒血液與腫瘤雜志;2009年06期

7 顧學范;葉軍;韓連書;;上海地區(qū)遺傳代謝病的新生兒篩查(英文)[J];臨床兒科雜志;2009年02期

8 周蘭霞;趙麗;杜曉云;;甘肅省93例苯丙酮尿癥患兒篩查分析[J];實用兒科臨床雜志;2008年20期

9 李烈堅;;新生兒G-6-PD篩查結果分析[J];中國醫(yī)藥指南;2008年13期

10 姚英姿;譚志偉;楊孜;單念忠;;新生兒G6PD缺乏癥篩查結果分析[J];中國婦幼保健;2008年04期

，

本文編號：1753447