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Biomedical subjects

Gang Chen

Publications and source records attributed to Gang Chen.

At least 217 records · Page 12Linked to original sources
PubMed2004

[A quantitative study of anterior chamber angle with ultrasound biomicroscopy after cataract surgery with phacoemulsification and foldable intraocular lenses implantation].

OBJECTIVE: To study the changes in anterior chamber angle after phacoemulsification and foldable IOL implantation with ultrasound biomicroscopy. METHODS: Small-incision phacoemulsification and foldable IOL implantation were performed in 50 eyes of 46 senior patients, and the changes of anterior chamber angle were determined quantitatively by using ultrasound biomicroscopy before and one month after the surgery. RESULTS: In all patients, the angle was widened significantly one month after surgery (P < 0.01). The measurements of TIA500 (trabecular-iris angle at 500 micro m from the scleral spur), AOD250 (angle-opening distance at 250 micro m from the scleral spur) and AOD500 (angle-opening distance at 500 micro m from the scleral spur) increased significantly after the operation (P < 0.01). The mean post/pre-operative TIA500 ratio, AOD250 ratio and AOD500 ratio were 1.65 (1.12 - 4.91), 1.81 (1.06 - 2.67) and 1.65 (1.01 - 2.76), respectively. A significant negative correlation existed between preoperative and postoperative data. CONCLUSION: Small-incision cataract surgery deepens the anterior chamber and widens anterior chamber angle significantly in senior patients. The narrower the preoperative angle, the higher ratio of post/preoperative ratio found.

Aged↗
PubMed2004

[Clinical study of primary branchiogenic carcinoma].

OBJECTIVE: To analyze the clinical feature and prognosis of primary branchial carcinoma. METHODS: The main method of this study was reviewing the clinical feature, diagnosis, treatment methods and prognosis of 5 patients suffered from primary branchial carcinoma. RESULTS: All of the tumors were excised extensively. All of the patients received radical neck dissection and post-operative radiotherapy. 3 patients had pathologic evident of metastasis in lymph nodes of cervical region. 2 patients died of local recurrence of tumor and metastasis to lung. 1 patient died after post-operative 2 years. 2 patients were still alive after 5 years' follow-up. CONCLUSION: Primary branchial carcinoma has the very similar clinical feature with branchial cyst. The diagnosis should be considered if painless mass and swollen lymph nodes were found in upper neck region of patients. Rapid frozen pathologic section should be made regularly to make the diagnosis clear. The treatment should include extensive excision of tumor and radical neck dissection to improve the cure rate and survival rate.

Adult↗
PubMed2004

[Effects of captopril on myocardial tissue energy metabolism and inflammation in rats with diabetic cardiomyopathy].

OBJECTIVE: To study the protective mechanism of captopril in diabetic cardiomyopathy by means of DNA microarray. METHODS: Rat models of diabetic cardiomyopathy were divided into test and control groups (n=5), and the rats in the test group were given oral captopril (1.5 mg/kg b.w.) for 15 weeks. DNA microarray was prepared by blotting the PCR products of 4 000 rat cDNAs onto a specially treated glass slides. The probes were prepared by labeling the mRNA from the myocardial tissue of both control and test groups with Cy3-d UTP and Cy5-d UTP separately through reverse transcription. The arrays were then hybridized against the cDNA probes and the fluorescent signals scanned. RESULTS: The expression of genes in relation to fatty acid b oxidation, mitochondrial proton-electron coupling and oxidative phosphorylation, and that of dithiolethione-inducible gene-1 were up-regulated, while the dimethylarginine dimethylaminohydrolase gene expression was obviously lowered in the test group in comparison with those of the control group. CONCLUSION: Captopril may protect the myocardial tissue through improving myocardial energy supply and depressing inflammatory reaction.

Animals↗
PubMed2004

[Ultrasound-guided percutaneous microwave coagulation therapy for hepatic metastases].

OBJECTIVE: To analyze the therapeutic results and prognostic factors of hepatic metastases treated by ultrasound-guided percutaneous microwave coagulation. METHODS: Seventy-four patients with 149 nodules of hepatic metastases were given percutaneous microwave coagulation therapy. The longest diameter of the metastatic nodule ranged from 0.7 - 6.8 cm (mean, 3.1 +/- 1.8 cm). The cumulative survival rate was analyzed by Kaplan-Meier method and the difference between groups was compared with log-rank test. Cox proportional hazard model was used to determine potential prognostic variables. RESULTS: The follow-up period for the 74 patients was 5 - 83 months (mean, 25.1 +/- 11.4 months). The overall 1-, 3-, and 5-year cumulative survival rates were 91.4%, 46.4% and 29.0%, respectively. The log-rank test showed that number of metastases, tumor size, tumor cell differentiation and local recurrence or new metastases were statistically significant prognostic factors; while age, sex and site of primary tumors were not significant prognostic factors. Multivariate analysis revealed that tumor differentiation, number of metastases and recurrence or new metastases were statistically significant prognostic factors. CONCLUSION: Ultrasound-guided percutaneous microwave coagulation therapy for hepatic metastases in patients with single metastasis, well-differentiated tumor, and without recurrence and new metastases could achieve long-term survival.

Adult↗
PubMed2004

[Clinical observation of the combination of phacoemulsification and trabeculectomy].

OBJECTIVE: To evaluate the therapeutic effects of combined phacoemulsification and trabeculectomy surgery with intraocular lens implantation and compare the results of two different approaches. METHODS: In a retrospective study, forty eyes of 35 cases cataract patients with primary open-angle or chronic angle-closure glaucoma were assigned to undergo either a single incision (single incision group, 15 eyes) or two-incision (double incision group, 25 eyes). best-corrected visual acuity (BCVA), pre-and post-operation intraocular pressure (IOP), postoperative bleb formation and postoperative complications were analyzed and compared between the two procedures. All cases were followed up for over 12 months. RESULTS: The mean IOP of 35 cases (40 eyes) in 12 months postoperatively was (14.35 +/- 3.03) mm Hg (1 mm Hg = 0.133 kPa), which was distinctly lower than that of preoperative [(35.76 +/- 4.39) mm Hg (t = 25.39, P < 0.001)]. There was no significant difference between the two groups in the mean IOP preoperation and 1 week, 1 month, 3, 6, 12 months postoperation. The postoperative BCVA was between 0.2 and 1.2, BCVA < 0.3 was found in three eyes (7.5%), and > or = 0.3 in 37 eyes (92.5%), BCVA was significantly improved in 4 eyes after surgery (chi(2) = 31.03, P < 0.001). There was no obviously difference in visual acuity between the two groups at one week, 3 months postoperatively (chi(2) = 0.22, and 0.05, P > 0.05), the type I or II bleb formation was detected in 35 eyes (87.5%). Post operation, among the eyes, 13 eyes were single-incision while 22 eyes with double-incision. No severe postoperative complications were revealed in all of operated cases. CONCLUSIONS: The procedures of combined phacoemulsification with trabeculectomy is safe, effective surgery for cataract patients combined with glaucoma. There were no differences in IOP, BCVA developing, bleb formation in early stage postoperatively using either single-incision or double-incision.

Aged↗
PubMed2004

[Changes of energy metabolism in canine respiratory muscles after phrenic nerve transection].

OBJECTIVE: To examine the changes in energy metabolism in the respiratory muscles of canines with unilateral phrenic nerve transection using high-performance liquid chromatography (HPLC). METHODS: The left phrenic nerve of 8 canines was transected and the contents of adenine nucleotide in respiratory muscles were determined by HPLC before and 1 and 2 months after the operation. RESULTS: In the intercostal muscles, ATP contents remained almost unchanged during the entire course of the observation, while ADP content was elevated 2 months after the operation as compared with that measured before and 1 month after the operation (P<0.05). One month postoperatively, the content of total adenylic acid (TAN) decreased to the lowest point, but the difference between the measurements was not statistically significant; also at 1 month after the operation, the content of adenylate energy charge (AEC) was the lowest, with statistically significant difference from the measurements before and 2 months after the operation (P<0.05). In the diaphragm, the contents of ATP, ADP, TAN and AEC 2 months postoperatively were 9.05+/-12.70, 2.99+/-2.57, 14.72+/-13.98, 0.57+/-0.29, significantly different from the levels at the other two time points (P<0.05). CONCLUSION: After unilateral phrenic nerve transection in canines, the energy metabolism of the diaphragm declines significantly, whereas that of the intercostal muscle can be compensated to some extent.

Adenine Nucleotides↗
PubMed2004

[Correlation of expression of RhoA (RhoC and their effector ROCK-1 with malignant phenotype of ovarian cancer cells in vitro].

OBJECTIVE: To investigate the expression of RhoA, RhoC and their effector ROCK-1 in four ovarian cancer cell lines in vitro and their correlation with invasiveness. METHODS: Expression of RhoA, RhoC and ROCK-1 mRNA and protein in four ovarian cancer cell lines SW626, Skov-3, A2780 and Caov-3 was detected by RT-PCR and Western blot assay. Invasion assay was done in Boyden chamber. RESULTS: The expression levels of RhoA, RhoC and ROCK-1 mRNA and protein varied in the four different cell lines examined. The expression level of RhoC, but not RhoA and ROCK-1, was significantly correlated with the invasive capability of these cells in vitro (r = 0.95, P < 0.01). Expression of RhoA at the level of transcription was not correlated with that at the translation level. The expression of RhoA and RhoC did not correlate with that of ROCK-1. CONCLUSION: Expression level of RhoC may serve as an independent parameter in evaluating metastasis and become a new target in inhibiting ovarian cancer metastasis.

Cell Line, Tumor↗
PubMed2004

Effect of lung resistance-related protein on the resistance to cisplatin in human ovarian cancer cell lines.

The mechanisms of drug-resistance in human ovarian cancer cells have not been entirely clarified. The purpose of this study was to investigate whether LRP is involved in the resistance of ovarian cancer cell lines to cisplatin and its molecular mechanism. Human ovarian cisplatin-resistant cancer cell lines (A2780/DDP and COC1/DDP) and their parental cisplatin-sensitive cell lines (A2780 and COC1), alone or transfected with antisense LRP-specific oligonucleotides (ODN) or sense ODN, were treated with cisplatin to induce differentiation. Expression of LRP was examined by RT-PCR and Western blot analysis. The sensitivities of cells to cisplatin were assessed using sulforhodamine B (SRB) assay and flow cytometry, and the accumulation and efflux of cisplatin in the cells and isolated nuclei were examined by high performance liquid chromatographic (HPLC) assay. The expressions of LRP in A2780/DDP and COC1/DDP cells were higher than those in A2780 and COC1 cells and conferred resistance to cisplatin. Transfection of LRP AsODN into A2780/DDP and COC1/DDP cells down-regulated LRP expression and reversed the resistance phenotype. Levels of cisplatin accumulating in cells were increased by LRP-specific AsODN and anti-LRP monoclonal antibody. Isolated nuclei from A2780 and COC1 cells or A2780/DDP and COC1/DDP cells incubated with anti-LRP antibody contained more cisplatin than the nuclei of A2780/DDP and COC1/DDP cells not treated with anti-LRP antibody. Efflux of cisplatin was greater from the nuclei of A2780/DDP and COC1/DDP cells than those of A2780 and COC1 cells, and was inhibited by anti-LRP monoclonal antibody. Thus, LRP was involved in the resistance of ovarian cancer cells to cisplatin and has an important role in the transport of cisplatin both in exocytotic vesicles and between the nucleus and cytoplasm.

Antineoplastic Agents↗
PubMed2004

[Nerve exploration and decompression for traumatic recurrent laryngeal nerve injuries induced by thyroid gland surgery].

OBJECTIVE: To show the findings of recurrent laryngeal nerve injury exploration and find out therapeutic effects, indications and timing of nerve decompression for traumatic recurrent laryngeal nerve injury induced by thyroid gland surgery. METHODS: In this study there were 87 patients with recurrent laryngeal nerve injury, including 65 for nerve exploration and 22 for nonsurgical treatment. During nerve exploration, the types, severity of laryngeal nerve injuries and laryngeal muscular mass were studied. Nerve decompression was performed in these 14 patients whose compressing sutures or compression due to cicatricial hypertrophy were received nerve decompression. RESULTS: Injuries caused by thyroid gland operations mostly are of suture ligation (43%) and nerve severance (48%); simple scar compression was found only in 6 cases (9%). Atrophy of the laryngeal muscles was not very serious in patients with a course less than 6 months. In 10 patients with a course less than three months, nerve decompression restored normal functional abductor and abductor motion of the vocal cord in 9 patients and had no effects in one. Although functional motion of vocal cord was not seen in one case with a course less than 3 months and 4 cases between 3 and 5 months, the mass and tension of the reinnervated vocal cord became much the same as the contralateral normal vocal cord, thus resuming symmetric vibration of the vocal cords and physiological phonation. Although nonsurgical treatment improved severe hoarseness, it didn't restore normal functional motion of the vocal cord and normal voice. CONCLUSIONS: Nerve exploration showed a primary rule for recurrent laryngeal nerve injury induced by thyroid gland surgery. Early and mid-stage recurrent laryngeal nerve exploration and decompression may restore normal motion of the glottis, and it suggested laryngeal delayed reinnervation may help patients with a course more than 6 months.

Adult↗
PubMed2004

[Study on quality evaluation methods of pretreatment for polystyrene-type macroporous absorbing resins].

OBJECTIVE: To establish a GC method using wide bore open tubular columns f or controlling pretreatment for polystyrene-type macroporous absorbing resins and its eligible standard. METHOD: A model macroporous absorbing resins made in our lab was eluted by anhydrous alcohol. The residual solvents in elution (xylene, styrene, diethylbenzene, divinybenzene, decane) were assayed by GC. When the residual solvents can not be detected, the pretreatment is eligible. Compare this method with the methods referring in the literatures. RESULT: When using this method to control the pretreatment, the resins need to be elute 11 times with anhydrous alcocol. When using "adding several times water in the alcohol elution will not be turbid" to control the pretreatment, the resins need to be elute 3 times with anhydrous alcocol. When using "the elution have no UV absorption between the wavelength 200-400 nm" to control the pretreatment, the resins need to be elute over 20 times with anhydrous alcocol. CONCLUSION: The method is simple and feasible.

Chromatography, Gas↗
PubMed2004

[Repairing of soft tissue defects with reverse island skin flap nourished by sural nerve vasa vasorum].

OBJECTIVE: To investigate the clinical outcome of the repairing of soft tissue defects of foot with reverse island skin flap nourished by vasa vasorum of the sural nerve. METHODS: The skin flap was designed with sural nerve and its vasa vasorum as the pedicle, and was harvested from the posterior crural region based on the size of the wounds. The defects of the foot in eighteen patients were repaired by reverse transplantation of the skin flap. The state of the skin flaps was observed post-operatively. RESULTS: All the skin flaps survived. The biggest skin flap was 10.5 cm x 16.5 cm in size. The donor sites healed well with negligible change in appearance and function. CONCLUSION: Reverse gastrocnemius musculocutaneous flap nourished by sural nerve vasa vasorum was easily procured with high survival rate, and it could be an ideal flap for the repair of soft tissue defect of the foot.

Adolescent↗
PubMed2004

[Visual outcome with the array multifocal intraocular lens].

OBJECTIVE: To evaluate the visual outcome of Array IOL, and examine the location of the lens. METHODS: 255 eyes in 196 patients received phaco and IOL implantation were randomized as test group 121 eyes (Array IOL) and case control group 134 eyes (monofocal Hydroview IOL). Postoperative examination included distance and near, uncorrected and corrected visual acuity, refractive results, and measurement of corneal curvature. Follow-up period ranged from three months to one year. RESULTS: Three months after surgery, 97.2% eyes (107/110) in test group with Array IOL had a distance visual acuity >/= 0.5, and in 24.5% (27/110) >/= 1.0. The difference was not significant (P > 0.05). 84.6% eyes (93/110) in test group had an uncorrected near acuity >/= 0.5 and 20.0% (22/110) >/= 1.0. The difference was significant (P < 0.01). The rate of wearing spectacles was 33.3% in test group and 90% in case control group. One month after surgery, 6 eyes in test group with haptic asymmetric location were not affected with visual recovery. The surgery-induced astigmatism in test group was 0.31 D, and no visual impairment appeared in both groups. Posterior capsule opacification was seen in 6 eyes in test group and 12 in case control group. CONCLUSION: The implantation of Array IOL not only has a good distance uncorrected visual acuity, but also with better near visual acuity. Also this surgery is safe, reliable and no special complication-induced.

Adult↗
PubMed2003

[Reversion of ovarian carcinoma metastasis by adeno-associated virus-mediated gene transfer of nm23H1 in orthotopic implantation model].

OBJECTIVE: To explore the feasibility of reverse effect of recombinant nm23H(1) adeno-associated virus (rAAV-nm23H(1)) in ovarian carcinoma metastatic orthotopic implantation nude model. METHODS: Using DNA recombination technique to construct AAV main plasmid pUF(1)-nm23H(1). rAAV-nm23H(1) and rAAV-Laz were produced by co-transfection of rAAV system in package cell 293 by phosphate-calcium deposit method, and then the transfection efficiency was measured. The titer was measured by dot hybridization. Ovarian carcinoma cell line SW626 was used in the establishment of the ovarian carcinoma orthotopic implantation nude model. The biologic feature of the model was observed and the expression of nm23H(1) in the tumor was measured by Western blot. Three groups of ovarian carcinoma orthotopic implantation nude model were applied by PBS (as control) (12 mice), rAAV-Laz (13 mice), rAAV-nm23H(1) (13 mice) intraperitoneally on the day 10 after transplantation. Then the effect of rAAV-nm23H(1) on survival and liver metastatic incident rates in models were observed. RESULTS: rAAV-nm23H(1) and rAAV-Laz were constructed and identified successfully. The titers were both 1 x 10(10) virus particles/ml. The transfection efficiency was 70%. The observation of biological feature showed the orthotopic implantation model was metastatic. The expression of nm23H(1) in AAV-nm23H(1) group was higher significantly than control and rAAV-Laz group (P < 0.05). Survival time of rAAV-nm23H(1) group was 136.67 days, compared with blank control group 106.67 days and rAAV-Laz group 107.06 days. Kaplan-Meier analysis showed rAAV-nm23H(1) group survived longer than control and rAAV-Laz group (P = 0.0051, P = 0.018 P < 0.05). The control and rAAV-Laz groups showed no statistically difference in survival time (P = 0.059 P > 0.05). The metastatic incident rate of control, rAAV-Laz and rAAV-nm23H(1) group was 75%, 61.5%, and 30.8% respectively, the rate of rAAV-nm23H(1) group was lower significantly than that of control and rAAV-Laz group (P = 0.03, P = 0.01). There was no significant difference between control and rAAV-Laz group in liver metastatic rate (P > 0.05). CONCLUSION: SW626 line which expressed lower level of nm23H(1) showed high-frequency metastasis properties, rAAV-nm23H(1) could reverse its metastasis in ovarian carcinoma orthotopic transplantation model.

Animals↗
PubMed2003

Fulvestrant in postmenopausal women with advanced breast cancer.

PURPOSE: Patients with hormone-sensitive breast cancer who have responded to tamoxifen (TAM) may receive additional benefit from a second endocrine agent after progression or relapse after TAM therapy. Fulvestrant (FVT; Faslodex; i.m. injection, ICI 182,780; AstraZeneca Pharmaceuticals, Wilmington, DE) was developed as a selective antagonist of estrogen. In postmenopausal women, FVT is reported to inhibit the proliferative effects of estrogen on sensitive tissues and has no apparent measurable estrogenic activity. In this report, we describe the data and analyses supporting marketing approval for FVT by the United States Food and Drug Administration (FDA). EXPERIMENTAL DESIGN: The FDA review of 16 clinical trials and 6 pharmacokinetic trials, as well as preclinical pharmacology and chemistry data, are described. The bases for marketing approval are summarized. RESULTS: Toxicology studies in the mouse, rat, and dog showed minimal toxicity except for antiestrogenic effects. Because of FVT aqueous insolubility, an i.m. formulation, given at monthly intervals, was selected for clinical studies. Pharmacokinetic studies demonstrated sustained concentrations with monthly injection. In in vitro studies FVT was extensively metabolized, primarily by hepatic cytochrome P450 3A4. Phase I studies showed minimal toxicity, and the maximal dose (250 mg) was limited by FVT solubility. In two Phase III trials, 851 patients were randomized to either 250 mg FVT i.m. monthly or to anastrozole (ANZ) 1 mg p.o. daily. Ninety-six percent of patients had received TAM previously for early (adjuvant treatment) or advanced breast cancer. Response rates (RR) were 17% for both FVT and ANZ study arms in the North American trial, and were 20% versus 15% for FVT versus ANZ, respectively, in the European trial. There were no observed differences between study arms with respect to time to progression or survival. The most common FVT adverse events reported as potentially treatment-related were injection site reactions and hot flashes. CONCLUSIONS: FVT was approved on April 25, 2002 by the FDA for the treatment of hormone receptor-positive metastatic breast cancer in postmenopausal women with disease progression after antiestrogen therapy. The recommended dose is 250 mg i.m. monthly as a single 5 ml injection or as two concurrent 2.5 ml injections into the buttocks. Approval was based on results of two randomized trials comparing response rates and time to progression of FVT- and ANZ-treated patients. Complete prescribing information is available on the FDA website.

Anastrozole↗
PubMed2003

Movable contactless-conductivity detector for microchip capillary electrophoresis.

A new movable contactless-conductivity detection system for microchip capillary electrophoresis is introduced. Such a versatile system relies on positioning the detector at different points along the separation channel via "sliding" the electrode holder. The new movable microchip detection system offers distinct improvements compared to common fixed-location conductivity detectors. For example, placing the detector at different locations along the microchannel offers useful insights into the separation process. Three-dimensional plots of resolution/channel length/separation voltage can be used for optimizing the separation process and selecting the analysis time. The system enables rapid switching between "total" (unresolved) and "individual" (resolved/fingerprint) signals on the basis of placing the detector at the beginning and end of the separation channel, respectively. By moving the detector to a shorter effective separation length, after eluting fast-migrating ions, shorter analysis times can be achieved (through faster detection of late-eluting analytes). These and other improvements in the analytical performance and insights into the separation process are illustrated in connection with the detection of low-energy ionic explosives and nerve agent degradation products.

Journal Article↗
PubMed2003

[Cardioprotective effects of diltiazem infusion in the perioperative period in patients undergoing coronary artery bypass grafting with extracorporeal circulation].

OBJECTIVE: To evaluate the cardioprotective effects of intravenous diltiazem infusion perioperatively in patients undergoing coronary artery bypass grafting (CABG) under extracorporeal circulation. METHODS: Forty patients undergoing CABG were divided into 2 groups of 20 patients according to the operation date: experimental group in which infusion of diltiazem (0.1 mg/kg/h) was given starting from the onset of extracorporeal circulation until 24 h after the aortic cross-clamping, and blank control group. The relative hemodynamic parameters were recorded for 48 hours. RESULTS: (1) 4 approximately 24 hours after the aortic cross-clamping the heart rates of the experimental group was 98 +/- 18 approximately 96 +/- 13 times/min, significantly lower than those of the control group (111 +/- 16 approximately 105 +/- 14 times/min, P<0.05); the values of rate-pressure product (RPP) of the experimental group were 13.0 +/- 3.7 approximately 11.7 +/- 3.0 mm Hg/min/10(3), significantly lower than those of the control group (14.1 +/- 1.9 approximately 5.8 +/- 3.6 approximately mm Hg/min/10(3), P<0.05) (2) The postoperative peak value of creatine kinase (CK) was not significantly different between these 2 groups. The postoperative peak value of creatine kinase-MB (CK-MB) in the experimental group was 83 +/- 33 IU/L, significantly lower than that in the control group (105 +/- 20 IU/L, P<0.05) and postoperative peak value of cardiac troponin-T (cTNT) was 0.38 +/- 0.21 IU/L, significantly lower than that in the control group (0.83 +/- 0.20 IU/L, P<0.05). The values of CK, CK-MB, and cardiac troponin TC (cTNT) of the patients with coronary vasospasm in the experimental group were all significantly lower than those of the patients with coronary vasospasm in the control group. (3) The average number of arrhythmic events per hour was lower in diltiazem group, and the average number of ventricular premature contraction per hour was significantly lower during the period of ST segment depression in particular. CONCLUSION: Perioperative intravenous diltiazem infusion provides significant cardioprotective effect in patients undergoing CABG.

Arrhythmias, Cardiac↗
PubMed2003

A novel locus for parietal foramina maps to chromosome 4q21-q23.

Parietal foramina [PFM], inherited usually in an autosomal dominant mode, is an extremely rare developmental defect characterized by a symmetrical, oval hole in the parietal bone. It can be present as either an isolated or a syndromic feature. PFM types 1 and 2 (PFM1 and PFM2) have been found to be caused by mutations in the MSX2 and ALX4 genes, located to chromosomes 5 and 11, respectively. After exclusion of both the above loci in a large Chinese pedigree with autosomal dominant PFM, a genome-wide search revealed a linkage of the PFM to markers at the 4q21-q23 region. The maximum LOD score from two-point linkage analysis is 3.87 for marker D4S2961. Analysis of co-segregated haplotype localized the region to a 20-cM interval that flanks D4S392 and D4S2945. Therefore, we concluded that the PFM in the family is a new PFM locus. Although three genes, BMPR1B, PP1 and IBSP, are located to 4q21-q25 and their functions are related to bone morphogenesis, no mutations were identified by sequencing analysis of their exons.

Chromosome Mapping↗