1.Carrier detection in families of Duchenne and Becker muscular dystrophy by methods of repeat sequence polymorphism and gene dosage analysis
Shuping CAI ; Dingguo SHEN ; Jiang WANG
Chinese Journal of Neurology 2001;0(02):-
Objective To develop and compare the methods for determining the carrier status in the 18 deleted families of Duchenne and Becker muscular dystrophy. Methods Deletion analysis of the probands was performed by multiplex polymerase chain reaction (PCR) to amplify 9 dystrophin exons described by Chamberlain. Polymorphism linkage analysis was made on DNA with PCR amplification using primers of intragenic short tandem repeat sequences (STR44, STR45, STR49 and STR50), primers of 5′ end (5′DYS II) and primers of 3′end (MZ18, MZ19) in the members of the families. Gene dosage analysis was performed and DQ value was calculated. Results Both of deletions of exons and STR allelic fragments adjacent to the deleted exons were determined in the probands. STR allelic fragments of 6 pairs of heterozygotes, 2 pairs of homozygotes and 11 hemizygotes were detected at those loci in all of the female relatives. 13 female relatives in deleted families were assayed with gene dosage analysis. In 9 /13 female relatives DQ value was in the range of single copy and carrier status was ascertained.Conclusion Repeat sequence polymorphism as well as gene dosage analysis can potentially be used in carrier detection in the deleted families of Duchenne and Becker muscular dystrophy.
2.Permeability of integerrimine in vitro
Yuehong XU ; Lianying XU ; Dingguo CAI ;
Chinese Traditional and Herbal Drugs 1994;0(09):-
Object The permeability of integerrimine was studied in vitro to design its anticancer preparations Methods Vilia Chien diffusion cells were adopted as apparatus for in vitro skin permeation, nude mouse skins were used as permeation barrier and permeation coefficient (P) was calculated The concentrations of integerrimine in samples were measured by RP HPLC, and the effects of Azone, 4% Tween 80, 8% propylene glycol on it were studied Results Its P is 1 184?10 -2 cm/h with water solution as donor and pH 6 8 PBS as receptor Its enhancement rate (ER) of 2% Azone and 8% propylene glycol is 2 8 and 1 5, while Tween 80 inhibits its penetration Conclusion Integerrimine is a good candidate of antiskin cancer for transdermal drug delivery, and the optimal formulation can be designed according to the experiments
3.Antitumor effects of extract from Ligia exotica(Roux)
Jun BIAN ; Weidong XUAN ; Zhiyong CHU ; Dingguo CAI
Chinese Journal of Marine Drugs 1994;0(01):-
Objective To study the antitumor activities of extract from Ligia exotica(Roux).Methods The dried powder of total Ligia exotica(Roux) was extracted by 37 ℃ water.The solution was concentrated in vacuum,and then was freeze-dried to afford crude extract.The inhibitory effect of the extract on tumor cells proliferation was assayed by MTT method,and transplant tumor model of sarcoma 180(S180) was used.Results The extract from Ligia exotica displayed obvious proliferation inhibitory effect on HeLa,7901,NCI cells,and no growth inhibitory effect on 929 cells in vitro.After administration at the doses of 0.25,0.50,1.00 g?kg-1,ip,for 7d in tumor-bearing mice with S180,The extract caused 26.9 %,45.3 %,64.6 % inhibition rates,respectively.Conclusion The extract from Ligia exotica showed significant antitumor activity.
4.Influence of gel vehicles on release in vitro and transdermal resorption of integerrimine
Yuehong XU ; Lianying XU ; Dingguo CAI ; Bao CHEN ; Lan HE
Chinese Traditional Patent Medicine 1992;0(06):-
AIM: The gel vehicle was optimized by release and transdermal resorption of integerrimine in vitro in order to design its anti-cancer transdermal drug delivery system. METHODS: The releasing rate was detected by dissolution Vilia-Chien diffusion cells, nude mouse skin were used as permeation barrier, the concentration of integerrimine in samples was measured by RP-HPLC. RESULTS: Integerrimine releases of three different vehicles conformed to Higuchi equation, the releasing rate of CMC-Na gel is faster than that of HPMC gel, and that of Carbopol gel is the slowest in three, and corresponded with zero kinetic equation. CONCLUSION: HPMC is an drug vehicle of choice.
5.Preliminary assessment of amyotrophic lateral sclerosis by using MRI and MR diffusion tensor imaging
Lin MA ; Dejun LI ; Hong YIN ; Dingguo SHEN ; Youquan CAI
Chinese Journal of Radiology 1999;0(10):-
Objective To describe the characteristic MR findings in the brain in patients with amyotrophic lateral sclerosis (ALS), and to assess the diagnostic value of conventional MR imaging and fractional anisotropy (FA) of diffusion tensor imaging (DTI). Methods Conventional MR imaging was performed in 14 clinically proved ALS patients and 12 age-matched normal controls. Contrast enhanced MR images were acquired in 2 patients. Axial and coronal DTI scans were performed in 10 patients and 12 normal controls with SE-EPI sequence. The b value was 1 000 s/mm 2, the number of diffusion sensitive gradient direction was 25. For quantitative assessment of the corticospinal tract (CST), FA value of bilateral CST was measured at the level of posterior limb (PL) of the internal capsule (IC) and the cerebral peduncle of the midbrain, respectively, and statistical analysis was performed. Results Focal slight low signal intensity on T 1WI and high signal intensity (hyperintense to gray matter) on T 2WI was demonstrated in 6 ALS cases (42.9%) in bilateral PL of the IC, and the high signal was longitudinally continuous from the PL to the cerebral peduncle on T 2WI coronal plane, corresponding to the course of CST. In another 8 ALS cases (57.1%), the focal slight low signal intensity on T 1WI and slight high signal intensity (isointense to gray matter) on T 2WI was revealed in bilateral PL of the IC. No abnormal contrast enhancement was detected in the 2 cases. In control group, the focal slight low signal intensity on T 1WI and slight high signal intensity (isointense to gray matter) on T 2WI was demonstrated in all 12 subjects in bilateral PL of the IC. FA values of the patient group were significantly lower than that of the control group at the level of the PL of the IC (F=7.38, P