甘肅省10043例新生兒聽力聯(lián)合聾病易感基因篩查的分子流行病學(xué)研究
[Abstract]:Objective: to investigate the effectiveness and feasibility of gene screening for deafness in neonatal hearing screening in order to make up for the deficiency and limitation found in neonatal hearing screening. And advocate the idea of simultaneous genetic screening for deafness in neonatal hearing screening. Methods: from November 2009 to April 2011, 10043 newborns born in 14 designated medical and health institutions in Gansu Province were selected as study subjects, and their hearing and gene were screened simultaneously. Screening otoacoustic emission (otoacoustic emission,OAE) and automatic discriminant auditory brainstem evoked potential (auto-auditory brainstem response, AABR).) were used in the primary and double screening of newborn hearing. The normal screening time was within 48h~72h after birth, and high-risk infants were examined before discharge after stable condition. 42 days after screening, diagnostic tests were performed at 3 months after birth. The neonatal umbilical cord blood was collected by using the neonatal genetic disease screening sampling card (ZL200720103139.4) which was designed by Wang Qiuju and Wang Qiuju of the 301 Hospital of Beijing people's Liberation Army (PLA), which contained the information of hearing screening and blood samples. This sampling card can be directly used for (polymerase chain reaction, PCR). Amplification of mitochondrial 12rRNA-GJB2 gene and SLC26A4 gene by polymerase chain reaction. The positive products of PCR were sequenced. The results of sequencing were analyzed by DNA Star software. Results: among the 10043 newborns, 9786 cases were selected for hearing screening, the screening rate was 97.4%, and 257 cases were not screened. Among them, 221 cases were discharged early or transferred to hospital, 29 cases were refused screening by parents, and 7 cases died. The primary screen passed 8377 (85.5%), 1409 cases (14.4%) failed, including 732 cases with single ear and 677 cases with double ear. Of the 1409 newborns that failed to pass the primary screening, 1129 were returned to hospital and the screening rate was 80.1%. 767 cases (54.4%) passed the double sieve, 362 cases (2.57%) did not pass the double ear or single ear, and 280 cases did not return to hospital. The rate of missing visit was 19.7%. The rate of participation in genetic screening was 100. Genetic screening for deafness showed that 2.29% (230 / 10043) of 10043 newborns carried one or two allele mutations or mitochondrial mutations, including 119 newborns with GJB2 gene mutations. 93 newborns had SLC26A4 gene mutations and 18 had mitochondrial mutations. Among them, 2 neonates were homozygous mutations of GJB2 gene, 1 neonates carried SLC26A4 heterozygosity mutation and 12s rRNA1555AG homogeneity mutation, 2 neonates carried SLC26A4 heterozygosity mutation and GJB2 gene compound heterozygosity mutation. However, 192 gene carriers passed hearing screening. Conclusion: by analyzing the results of hearing screening, the overall screening rate was 97.4, which reached 95% of the screening requirements. Gene screening can be used as an important supplement to hearing screening. It can not only make up for the limitations of hearing screening and improve the detection rate of deaf children, but also make clear the cause of the hearing, and make a diagnosis of the molecular etiology of the proband. Effective genetic counseling will play an important role in the prevention and treatment of deafness of family members. The combination of hearing screening and gene screening is the most effective screening strategy for early detection of children at high risk of prelingual hearing loss or delayed onset or carriers of deafness genes and regular follow-up and monitoring.
【學(xué)位授予單位】:蘭州大學(xué)
【學(xué)位級(jí)別】:博士
【學(xué)位授予年份】:2012
【分類號(hào)】:R764;R722.1
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