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Objective:To investigate the diagnostic value of serum CircRNA_0048211 expression level in postmenopausal osteoporosis (PMOP) and its correlation with bone-specific alkaline phosphatase (BALP), osteopontin (OPN), procollagen type I N-terminal propeptide (PINP) and β-crosslaps (β-CTX). Methods:Data of postmenopausal women who underwent physical examination in our hospital from January 2019 to December 2021 were collected. All subjects were measured bone mineral density (BMD) by dual-energy X-ray absorptiometry and divided into PMOP group, decreased bone mass group and normal bone mass group according to BMD level. The serum CircRNA_0048211, BALP, OPN, PINP and β-CTX levels were compared in each group. Binary logistic regression was used to analyze the risk factors of PMOP, the receiver operating characteristic curve (ROC) was drawn to analyze the diagnostic value of CircRNA_0048211, BALP, OPN, PINP and β-CTX on PMOP. The correlation between CircRNA_0048211 expression level and BALP, OPN, PINP and β-CTX was analyzed by Pearson correlation analysis. Results:A total of 218 patients were included in this study. Age is 60.52±6.83 years (range, 47-76 years), body mass index is 24.27±2.28 kg/m 2 (range, 22.18-25.73 kg/m 2) and menopausal time is 10.16±4.25 years (range, 2.30-21.80 years). There were 40 cases in PMOP group, 97 cases in osteopenia group and 81 cases in normal bone mass group. The serum CircRNA_ 0048211, BALP, OPN, PINP and β-CTX was significantly different between PMOP group, osteopenia group and normal group ( F=21.15, P<0.001; F=12.52, P<0.001; F=17.86, P<0.001; F=14.32, P<0.001; F=15.52, P<0.001). The serum CircRNA_0048211 level in PMOP group (0.37±0.08) were significantly lower than that of osteopenia group (1.05±0.46) and normal bone mass group (1.73±0.81), the difference was statistically significant ( P<0.05). The levels of BALP (28.42±7.35 μg/L), OPN (17.28±7.30 ng/ml), PINP (58.40±14.37 ng/ml) and β-CTX (1.52±0.28 μg/L) in PMOP group were significantly higher than those in osteopenia group (22.61±5.93 μg/L, 11.95±5.64 ng/ml, 49.16±11.24 ng/ml, 0.81±0.17 μg/L) and normal bone mass group (16.30±4.18 μg/L, 7.62±3.25 ng/ml, 35.48±7.12 ng/ml, 0.37±0.10 μg/L), the difference was statistically significant ( P<0.05). Binary logistic regression analysis showed that decreased CircRNA_0048211 expression level [ OR=3.53, 95% CI (2.73, 10.32)] was a risk factor for the occurrence of PMOP ( P<0.001). ROC curve showed that CircRNA_0048211≤0.76 has a diagnostic significance on PMOP, and its combination of BALP, OPN, PINP and β-CTX has the highest AUC [0.95, 95% CI (0.89, 1.00)] in diagnosing PMOP. Correlation analysis showed that CircRNA_0048211 expression level were negatively correlated with BALP, OPN, PINP and β-CTX ( r=-0.46, P<0.001; r=-0.80, P<0.001; r=-0.81, P<0.001; r=-0.69, P<0.001). Conclusion:The CircRNA_0048211 showed low expression in PMOP, which was negatively correlated with BALP, OPN, PINP and β-CTX. The combination of these five factors has certain clinical value in the diagnosis of PMOP.
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@#Objective To explore the association between preoperative, perioperative parameters, especially estimated glomerular filtration rate (eGFR) and postoperative atrial fibrillation (POAF) after modified extended Morrow procedure. Methods A total of 300 hypertrophic obstructive cardiomyopathy (HOCM) patients who underwent modified extended Morrow procedure in our hospital from January 2012 to March 2018 were collected. There were 197 (65.67%) males and 103 (34.33%) females with an average age of 43.54±13.81 years. Heart rhythm was continuously monitored during hospitalization. The patients were divided into a POAF group (n=68) and a non-POAF group (n=232). The general data, perioperative parameters and echocardiographic results were collected by consulting medical records for statistical analysis. Univariate and multivariate logistic regression models were used to analyze the risk factors for POAF. Results Overall incidence of POAF during hospitalization was 22.67% (68/300). Compared with patients without POAF, patients with POAF were older, had higher incidence of chest pain and syncope, lower level of preoperative eGFR, higher body mass index and heart function classification (NYHA), larger preoperative left atrial diameter and left ventricular end diastolic diameter, and longer ventilator-assisted time, ICU stay and postoperative hospital stay. Age, heart function classification (NYHA)≥Ⅲ, hypertension, syncope history and eGFR were independent risk factors for POAF. Receiver operating characteristic curve analysis showed that the area under the curve of eGFR was 0.731 (95%CI 0.677-0.780, P<0.001), and the sensitivity and specificity were 82.4% and 57.8%, respectively. Conclusion Increased age, high preoperative heart function classification (NYHA), hypertension, preoperative syncope history and decreased eGFR are independent risk factors for POAF in HOCM patients who underwent surgical septal myectomy. Preoperative decreased eGFR can moderately predict the occurrence of POAF after modified extended Morrow procedure.
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Objective:To investigate the changes of strains based on feature tracking in patients with hypertrophic obstructive cardiomyopathy (HOCM) after surgical myectomy and the potential factors that influenced post-myectomy global strains.Methods:A total of 27 patients with HOCM who underwent septal myectomy in Fuwai Hospital from June 2014 to July 2017 were retrospectively collected. They all received cardiac MR (CMR) cine acquisitions before and after surgery. Their preoperative and postoperative strain parameters, including radial strain (RS), circumferential strain (CS), and longitudinal strain (LS) of the global left ventricle, septum, and lateral wall, were assessed by feature tracking. Comparisons of pre-myectomy and post-myectomy imaging parameters were performed using paired-samples t-test or Wilcoxon matched-pairs signed-ranks test. Pearson or Spearman correlation analysis and linear regression analysis were utilized to find the correlated factors of postoperative global strains. Results:Compared with preoperative strains, postoperative global LS, septal LS, lateral RS, lateral CS, and lateral LS increased statistically (all P<0.05); postoperative global RS, global CS, and septal CS decreased (all P<0.05); no statistically significant difference was observed in septal RS ( P=0.165). Age at surgery ( r=0.428, P=0.026) and preoperative myocardial maximum ventricular wall thickness ( r=-0.587, P=0.001) were both linearly related to postoperative global RS; the further multivariate stepwise linear regressions showed that only preoperative myocardial maximum ventricular wall thickness might be correlated with postoperative global RS (adjusted R 2=0.287, P=0.002). Only myocardial maximum ventricular wall thickness was linearly related to global CS ( r=0.679, P<0.001) and global LS ( r=0.588, P=0.001), respectively; univariate linear regression revealed that preoperative myocardial maximum ventricular wall thickness might be correlated postoperative global CS (adjusted R 2=0.337, P=0.001) and postoperative global LS (adjusted R 2=0.281, P=0.003), respectively. Conclusions:Cardiac surgery definitely relieves left ventricular outflow tract obstruction and generally improves longitudinal and lateral strains, but a negative impact may occur in global and septal CS and RS. Preoperative maximum ventricular wall thickness may affect postoperative global strains.
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@#Objective To analyze the diagnosis and treatment of patients with ventricular septal defect complicated with infective endocarditis. Methods We retrospectively analyzed the clinical data of 40 patients with ventricular septal defect complicated with infective endocarditis in our hospital from 2001 to 2016. There were 25 males and 15 females, aged 20-62 (39.92±11.16) years. They were divided into two groups according to the duration from admission to surgery: a group A (an early operation group whose surgery was performed within 7 days after admission) and a group B (a conventional treatment group with the duration from admission to surgery>7 days). Among them, there were 27 patients in the group A including 15 males and 12 females with an average age of 39.56±11.80 years, and 13 patients in the group B including 10 males and 3 females with an average age of 40.69±10.13 years. All patients were examined by echocardiogram and blood bacterial culture to investigate their etiology, echocardiogram results and treatment status. And the clinical data of the two groups were compared. Results Two patients died before operation in the group B, one died of heart failure, and one cerebral infarction. No reoperation during hospitalization, cerebral infarction, thromboembolism or other complications occurred. The ventilation time in the group A was significantly shorter than that in the group B (18.00±14.85 h vs. 31.00±29.57 h, P=0.015). There was no statistical difference in the extracorporeal circulation time, myocardial block time, or postoperative hospital stay between the two groups (P>0.05). After discharge, the patients continued antibiotic therapy for 3-6 weeks. Patients were followed up for 12-127 (75.74±6.01) months, 1 died of malignant tumors in the group A, 1 developed atrial fibrillation and 1 developed cardiac insufficiency in the group B, and the rest of patients did not complain of obvious discomfort. There was no residual shunt, recurrence of infective endocarditis, reoperation, postoperative stroke or thromboembolism. Conclusion Preoperative echocardio-graphy and blood bacteriological culture are helpful for the diagnosis and treatment of patients with ventricular septal defect complicated with infective endocarditis. Early surgery is safe and effective for these patients, and can improve the long-term survival rate.
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@#Objective To evaluate the efficacy and safety of modified maze Ⅳ (Cox-maze Ⅳ) in hypertrophic obstructive cardiomyopathy (HOCM) patients. Methods From June 2016 to June 2019, 30 HOCM and persistent atrial fibrillation (pAF) patients received Cox-maze Ⅳ operation with modified extended Morrow operation, including 21 males and 9 females. The average age was 51.36±10.27 years and the average weight was 72.48±11.29 kg. All patients underwent left atrial appendectomy. Recurrence of AF, improvement of symptoms, cardiac function (NYHA) were assessed during follow-up. Results There was no death during the perioperative period. Postoperative left ventricular outflow tract gradient was significantly decreased compared with that before operation (P<0.01), and all systolic anterior motion (SAM) signs disappeared after operation. Thirty patients were all effectively followed up for 3-40 (16.24±8.26) months. During the follow-up period, there was no death, and the cardiac function (NYHA) of all patients recovered to gradeⅠ-Ⅱ. At the end of follow-up, twenty-four patients (80.00%) maintained sinus rhythm, and twenty-seven patients (90.00%) maintained sinus rhythm after amiodarone conversion. Univariate analysis showed that the smoking history (P=0.04), left atrial diameter≥55 mm before operation (P=0.03), left atrial diameter≥50 mm after operation (P=0.02), postoperative tricuspid regurgitation (P=0.02) were closely related to postoperative AF recurrence. The increase of left atrial diameter after operation was an independent risk factor for AF recurrence (P=0.02). Conclusion Morrow/Cox-maze Ⅳ procedure is safe and effective in treatment of patients with HOCM complicated with pAF, which helps to maintain postoperative sinus rhythm, and to improve the cardiac function. The increase of left atrial diameter after operation is an independent risk factor for AF recurrence.
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The ischemic mitral regurgitation( IMR) is present in 20% to 30% of patients with old myocardial infarction. In patients with heart failure after myocardial infarction , the incidence of IMR is even as high as 50%.IMR has adverse effects on the prognosis of patients and is positively correlated with the degree of reflux , including increased risk of heart failure and mortality of cardiovascular disease.Patients with severe hemodynamic abnormalities, and in the case of have accepted the best drug treatment is still difficult to alleviate symptoms of heart failure , surgical treatment should be implemented.However, the surgical treatment strategy of IMR is still controversial, that is, for the moderate IMR, only the blood transport reconstruction is sufficient to restore the natural form of the valve, whether the valve operation needs to be performed simultaneously ; In the case of severe IMR, simultaneous valvular surgery has been agreed upon.The controversy is that the mitral valve repair(MVP) and mitral valve replacement(MVR) are both superior and inferior.The purpose of this paper is to review the literature on IMR sur-gery in order to help us understand this important question.
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Objective To study the surgical techniques and the clinical curative ettect of the reconstruction of adjacent large finger pulps with the modified sensate free proximal ulnar artery perforator flap.Methods From February,2013 to May,2016,20 fingers in 10 patients with adjacent large finger pulp defects crossing the DIP joint were reconstructed by the modified senate free proximal ulnar artery perforator flap.All the pulps of every patient were recovered by 1 flap in the first stage and the artificial syndactyly of two digits was divided in 7 weeks after the flap transfer in the second stage.In order to reconstruct the sensation of two pulps in each patient,firstly both of the proximal and distal ends of the cutaneous nerve in flaps were dissected and anastomosed with the most lateral and medial palmar digital nerves of two adjacent fingers respectively,which were divided into 2 groups.Secondly the cutaneous nerve in the middle part of flap was cut and the two ends were anastomosed with the other two palmar digital nerves in the second surgery.There were 8 fingers in 4 patients with the index and middle finger pulp defects,12 fingers in 6 patients with the middle and ring finger defects.The flap size was from 5.0 cm×3.5 cm to 5.5 cm×4.0 cm,and the perforator artery was anastomosed with the palmar digital artery in 6 cases and with the joint branch of digital artery in 4 cases.Results Nine flaps survived uneventfully except the venous congestion was found in 1 flap which was salvaged successfully by acupuncture bleeding.Also,no congestion or ischemia of all the 20 pulp flaps occurred right after releasing the artificial syndactyly.The time of followed-up was from 11 months to 32 months with the average of 17 months after the second surgery.The static two point discrimination of the 2 groups of the sensate pulp flap was (7.3 ± 1.2) mm and (8.6 ±2.4) mm respectively.There was no significant difference between groups (P ＞ 0.05).These 20 pulp flaps were also assessed by the Semmes-Weinstein monofilament test with the result of diminished light touch in 14 pulps and diminished protective touch in 6 pulps.The total active motion in all 20 fingers was (248.0±4.5) °.No patients suffered cold intolerance and local pain but 1 had hypersensitiveness in the pulp flap.Conclusion The modified sensate free proximal ulnar arte~ perforator flap is a practical alternative for the reconstruction of two large adjacent pulps with satisfactory functional and aesthetic outcomes.
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Objective To evaluate the clinical outcome of the method of repairing donor site of foot after improved toe-to-thumb reconstruction utilizing superficial circumflex iliac artery perforator (SCIAP) chimeric flap.Methods Fourteen cases of thumb defect were recruited from April,2012 to January,2016.According to Gu Yudong's classification,5 cases met the criterion of type Ⅰ,4 cases met the criterion of type Ⅱ,and 5 cases met the criterion of type Ⅲ.For type Ⅰ,the thumb was reconstructed with the great toe wrap-around flap.For type Ⅱ and Ⅲ,the thumb was reconstructed by the combined tissue with mutual artery (great toe wrap-around flap,and the bonetendon tissue of the second toe).All the donor sites of foot were repaired utilizing SCIAP chimeric flap.Results All the reconstructed thumbs survived.Among 14 free flaps of donor site,1 case suffered venous crisis and survived after exploration and rescue surgery.Dorsal skin necrosis of the second toe was found in 1 case,which was healed by local skin flap transposition.All patients were followed-up ranged from 3 to 30 months (averaged at 16 months).In spite of slightly bloated,the color and texture of all the flaps' was satisfied,and the average healing time of the bone in the donor sites was 2.5 months.All patients did not feel painful and had no adverse effect when walking and running.Three months after the operation,5 slightly bloated flaps in the donor sites under went flap plastic and achieved better appearance.On the part of iliaca,there was only one inconspicuous linear scar without any discomfort.Conclusion Repairing donor site of foot after improved toe-to-thumb reconstruction utilizing SCIAP chimeric flap was an ideal method.Using this method,the reconstructed thumb can achieve good appearance and function,all the toes of donor site were reserved,and the disability of the donor site is minimized.
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Objective To evaluate the clinical outcome of reconstruction of traumatic digital arthritis by transfer of free proximal interphalangeal joint of the second toe with toe reserving technique.Methods The study enrolled nineteen patients with traumatic digital arthritis treated from May 2013 to April 2016.The patients consisted of fifteen males and four females,and mnean age was 27.3 years (range,18-52 years).Finger involved included index fingers in 10 patients,middle fingers in seven and ring fingers in two.The joint of digit was reconstructed by transplanting the proximal interphalangeal joint of the second toe with a monitoring flap,and bone defect of the second toe was repaired with autogenous iliac bone graft.Wound was closed directly in six patients and covered by island flap from the foot dorsurn in 13 patients.Evaluation indicators contained survival rate of the free joint and island flap,appearance and fracture healing of the finger and toe and mnotion of the proximal digital joint.Finger function was studied using the evaluation standard of upper limb function set up by hand surgery branch of Chinese Medical Association.Healing in the donor site,foot function and related complications were observed.Results All the free joint and island flap survived.Period of follow-up was 6-30 months (mean,14 months).The fractured finger healed at 2.5 months on average,and appearance of the finger was good.Flexion range of the proximal digital joint was 63 °-80° (mean,74°) and extension range was-20°--10° (mean,-14°).Finger function was excellent in eleven patients and good in eight patients,with the excellent-good rate of 100％.Hematoma of the dorsal region of the foot occurred in one patient and the cut healed well after taking out some stitches and drainage.All fractured toe healed at 2.6 months.Except that one patient had fracture malunion with minor outward inclination,all presented good appearance of the toe without influencing walking and running.On the part of iliac,there was only one inconspicuous linear scar without any discomfort.Conclusions Transfer of free proximal interphalangeal joint of the second toe with toe preservation restores the anatomy structure and function of the digital joint.Meantime,autogenous iliac bone grafting combined with island flap from the foot dorsum for coverage of donor site defect retains the toe length and reduces injury of the donor site.
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Objective To study the MRI of cervical spinal cord injury without fracture and dislocation and explore of the apparent diffu-sion coefficient (ADC) of injured site related to the severity of injury. Methods 46 patients with cervical spinal cord injury without fracture and dislocation and 20 healthy controls were scaned with routine MRI and diffusion weighted imaging. The ADC value of site of injury and grades of Frankel's classification were analyze with the correlation. Results There were 22 cases with spinal cord edema, 8 cases with intra-medullary hemorrhage, 14 cases with edema and hemorrhage, 2 cases without abnormal finding. The ADC of controls and patients were (1.05±0.12)×10-3 mm2/s, (1.21±0.23)×10-3 mm2/s (t=0.704, P<0.05). The ADC values positively correlated with the grades of Frankel's clas-sification (r=0.407, P<0.05). Conclusion MRI may help to find the cervical cord injury in those without fracture and dislocation, and the ADC may be resposible to the severity of injury.
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@#Objective To study the MRI of cervical spinal cord injury without fracture and dislocation and explore of the apparent diffusion coefficient (ADC) of injured site related to the severity of injury. Methods 46 patients with cervical spinal cord injury without fracture and dislocation and 20 healthy controls were scaned with routine MRI and diffusion weighted imaging. The ADC value of site of injury and grades of Frankel's classification were analyze with the correlation. Results There were 22 cases with spinal cord edema, 8 cases with intramedullary hemorrhage, 14 cases with edema and hemorrhage, 2 cases without abnormal finding. The ADC of controls and patients were (1.05±0.12)×10-3 mm2/s, (1.21±0.23)×10-3 mm2/s (t=0.704, P<0.05). The ADC values positively correlated with the grades of Frankel's classification (r=0.407, P<0.05). Conclusion MRI may help to find the cervical cord injury in those without fracture and dislocation, and the ADC may be resposible to the severity of injury.
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Objective To compare the torque resistance effect with different types of reconstruction of the distal radioulnar joint (DRUJ) dislocation,in order to explore biomechanical basis for clinical practice.Methods Six adult cadaver forearm were used,including 4 males and 2 females.The average death age was 64.9 years (range,36-78 years).Three were right side,3 were left side.The DRUJ dislocation model was made after the standardized resection of the palmar and dorsal DRUJ ligament.Clinic reconstruction methods of the DRUJ include trans-bone tunnel renconstruction (intra-articular reconstruction) and Looptie up reconstruction (extra-articular reconstruction).The mechanical properties as follows:torque velocity:5°/min,maximum torque angulation:90°,maximum torsion force:1 N· mm.Each limb was detected for the torque mechanic under four conditions:normal,DRUJ dislocation,intra-articular reconstruction and extra-articular reconstruction.Results Each limb was inspected for intact mechanic baseline and without the visual damage to the bone.The average pronation torque resistance on normal condition was (0.44±0.10) N·mm,(0.37±0.09) N·mm on DRUJ dislocation group,(0.45±0.09) N-mm on intra-articular reconstruction group,and (0.42±0.09) N·nun on extra-articular reconstruction group.Pronation torque resistance of DRUJ dislocation group was apparently lower than the normal group (t=2.043,P=-0.047).The pronation torque resistance reconstruction group had no significant difference with normal group.The average supination torque resistance on normal condition was (0.56±0.16) N·mm,while on DRUJ dislocation group was (0.42±0.11) N-mm,on intra-articular reconstruction group was (0.54±0.16) N·mm,on extra-articular reconstruction group was (0.51±0.13) N·mm.There were no apparent differences among four groups.Conclusion Both internal and external reconstruction could recover the rotation stability and normalize the torque resistance,without statistical difference.
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Objective To provide anatomical landmarks with which to facilitate flap dissection,we studied the perforator artery of the dorsal forearm including its source,quantity,origination,caliber,variation and pedicle length. Methods Ten fresh cadavers were injected with a modified lead oxide-gelatin mixture,and three-dimensional graphics of the perforator vessels of the dorsal forearm were reconstructed with a computed tomography. In addition, twenty upper extremity specimens were injected with red latex via the axillary artery.The integument of the forearm was dissected,and perforators were identified,including type,course,size and location were documented.Surface areas were measured with Scion Image. Results The average number of the posterior interosseous artery cutaneous perforators in the dorsal forearm was (5±2),the average outer diameter of the perforator artories was (0.5 ± 0.1) mm,and the pedicle length was (2.5 ±0.2) cm.The average cutaneous vascular territory was (22.0 ± 15.0) cm2.The dorsal branch of the anterior interosseous artery dispersed on the wrist dorsum or the distal third of the dorsal forearm. It's average diameter was 0.8 mum. Conclusion The free transplantation of the posterior interosseous perforator artery flaps or rotary flap pedicled by the dorsal branch of the anterior interosseous artery for defect reconstruction are feasible.
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ObjectiveTo evaluate the curative effect of reconstruction of the hand and foot defects with bones and tendons exposure using free medial sural artery perforator flap(MSAP). MethodsRadiographs of 2 cadavers injected with a modified lead oxide-gelatin mixture were digitally analyzed. Between April 2007 and December 2010, thirty-four patients with soft tissue defects in the distal limb were treated with the free MSAP flap transplantation. The sizes of the defect ranged 6 cm × 4 cm-13 cm × 8 cm, and the flaps ranged 7 cm× 5 cm-14 cm × 9 cm. These clinical cases included 25 hands and 9 feet, all of them with bones and tendons exposure.In these defects,twenty-two were clean,twelve got infections.In our cases, twenty-three flaps were nourished with single perforator vessel and else 11 with two;perforator vessel fifteen flaps were dissected one superficial vein to anastomose with that of the recipient sites in addition to accompanying vein anastomosis;The sensation of 9 flaps recovered the hands were reconstructed with cutaneous nerve anastomosis. ResultsA partition of the calf skin blood vessels,and three-dimensional reconstruction image of the sural artery were obtained.All flaps survived,five of them appeared partially violet and bubbles. Followed up 6-21 months, the cosmetic results were satisfactory and without apparent bulkiness.The flap colors were similar to recipient sites. The flap senses reconstructed with neural anastomosis recover to S2-S3. ConclusionThe new flap is very suitable to repair the soft tissue defect in the distal limbs,because the fairly constant perforator vessel,the reliable blood supply and the cosmetic shape of the MSAP flap are all advantages of it in addition to no damage to low leg chief artery and gastrocnemius.
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This investigation was conducted to explore the relationship between the polymorphism of gene of glucose transport 1(GLUT1) and the human body adaptation to high altitude hypoxia environment. The data on glucose transport 1 gene polymorphism in Tibetan mountaineers (high altitude group) were analyzed and compared with the data from the level-land Guangdong Hans (control group). The genotype of 86 Tibetan mountaineers and 90 level-land Hans as controls were tested with polymerase chain reaction followed by restriction fragment length polymorphism analysis for GLUT1 gene. The results showed that, in the high altitude mountaineer group, the frequencies of +22999 locus genotypes GG, GT and TT were 44.2%, 46.5% and 9.3% respectively, and such frequencies in the control group were 66.7%, 31.1% and 2.2% respectively. The frequencies of + 22999 polymorphic genotypes and alleles showed statistically significant difference between the high altitude group and the control group (P<0.05). Genetic single nucleotide polymorphism in GLUT1 G+22999T may be associated with the adaptation to high altitude hypoxia.
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Adolescent , Adult , Female , Humans , Male , Middle Aged , Young Adult , Adaptation, Physiological , Genetics , Alleles , Altitude , Base Sequence , Genotype , Glucose Transporter Type 1 , Genetics , Hypoxia , Genetics , Molecular Sequence Data , Polymerase Chain Reaction , Methods , Polymorphism, Restriction Fragment Length , TibetABSTRACT
In this study the blood sample was collected from eighty-six athletes in Tibetan mountaining team and Tibetan mountaining sports school and ninety healthy Han nationality people in Guangdong province, and genomic DNA was extracted from peripheral leukocyte. The allele frequency distribution and the genotypes combination distribution of hypoxia-inducible factor-la gene (HIF-1alpha)exonl2 C1772T and G1790A were examined by restriction fragment length polymorphism PCR (PCR-RFLP) in order to evaluate the association of single nucleotide polymorphisms (SNPs) of HIF-1alpha C1772T and G1790A with hypoxic acclimation in high altitude in Tibetans. The results indicated that the genotype frequency of HIF-1alpha C1772T in Tibetan and in Han nationality was 13.95% versus 16.67% in genotype CC, 38.37% versus 41.11% in genotype CT and 47.68% versus 42.22% in genotype TT. No significant difference in CC, CT and TT genotype frequency of HIF-1alphaC1772T was shown between Tibetans and Han nationality respectively, while GA genotype frequency of HIF-la G1790A in Tibetans was higher than that in Han nationality. The GA genotype of HIF-1alpha G1790A may be involved in the hypoxic acclimation of high altitude , and it is worth of deep-going investigation.
Subject(s)
Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Adaptation, Physiological , Genetics , Physiology , Altitude , Base Sequence , Hypoxia , Genetics , Hypoxia-Inducible Factor 1, alpha Subunit , Genetics , Linkage Disequilibrium , Molecular Sequence Data , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Polymorphism, Single Nucleotide , Genetics , TibetABSTRACT
Objective To investigate the relation between polymorphisms of pulmonary surfactant protein A gene and adaptation to hypobaric hypoxia. Methods The genotype proportions and allel frequencies of 86 Tibetan mountaineers and 90 sea-level Hans were examined with polymerase chain reaction-sequence specific primer(SSP-PCR) reaction for surfactant protein A gene. Results The constituent ratio of A/A,A/G and G/G genotypes in A1-aa62 locus and C/C,A/C and A/A genotypes in A2-aa223 locus showed significant statistic difference between highland group and the sea-level control group(P＜0.05). A1-aa62 G/G and A2-aa223 A/C genotype demonstrated high odds ratio in Tibetan mountaineers. Moreover, the comparisons of genotypes and alleles in A1-219 locus showed no significant difference between the plateau group and the sea-level Han control(P＞0.05). Conclusion The single-nucleotide polymorphisms(SPN) in SP-A1aa62 and SP-A2aa223 may be associated with the adaptation to hypobaric hypoxia.