Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective: To investigate the effects of clustered warming intervention on spontaneous hypothermia and coagulation function in patients with emergency trauma. Methods: A total of 118 cases of emergency trauma patients admitted from January 2017 to December 2018 in Changzhou Second People′s Hospital were selected as subjects. According to the time of admission, there were 62 cases in the control group from January 2017 to December 2017 and 56 cases in the treatment group from January 2018 to December 2018. The control group used routine emergency nursing intervention and warming measures, and the treatment group combined with clustered warming intervention. The changes of body temperature, coagulation function, spontaneous hypothermia and prognosis were compared between the two groups. Results: When entering the Emergency Department and entering the Emergency Department for 60 minutes, the body temperature of the emergency trauma patients in the treatment group were (36.41±0.75) and (36.74±0.65)℃, and the control group were (35.42±0.80) and (35.54±0.76)℃. The difference between the two groups was statistically significant (t value was 6.914, 9.168, P<0.01). After entering the Emergency Department for 60 minutes, the activated partial thromboplastin time, prothrombin time, and thrombin time in the treatment group were (35.24±2.25), (13.56±1.02), (17.45±1.52) s, and the control group was (39.45±3.42), (15.12±1.34), (19.20±1.23) s. The difference between the two groups was statistically significant (t value was 7.802, 7.058, 6093, P<0.01). The incidence of spontaneous hypothermia and duration of hypothermia in the treatment group were 16.07%(9/56), (7.32±1.14) h, and that in the control group was 41.94%(26/62) and (18.42±3.20) h. The difference between the two groups was statistically significant (χ² value was 9.432, t value was 24.579, P<0.01). The incidence of chills, infection and death in the observation group was 16.07%(9/56), 7.14%(4/56), and 5.36%(3/56), and that in the control group was 51.61%(32/62), 24.19%(15/62), and 17.74%(11/62). The difference between the two groups was statistically significant (χ² value was 16.393, 6.322, 4.316, P< 0.05 or 0.01). Conclusions Clustered warming intervention can help prevent the risk of spontaneous hypothermia in emergency trauma patients, antagonize coagulation dysfunction and improve patient prognosis.