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METHODSFifty-four big ear rabbits were divided into 3 groups randomly and given 40 Gy, 80 Gy, 120 Gy respectively. Radioactive seeds were implanted in one side of parotid gland, the other side was implanted with vacant shell as a control group. The facial nerves were obtained 2, 4, 6 months respectively after operation and the histological ultrastructural changes observed by electromicroscope.

RESULTSIn the control group, epineurium was continuous, there was slight pitting edema under the epineurium, and axonal myelin was loose. In the test groups, there was slight pitting edema under the epineurium, and axonal myelin sheath was loose at 4th month. Macrophage and regenerated fibers were found in the 80 Gy group and myelin sheath lamellar separation, regeneration of nerve in the 120 Gy dosage. The myelin sheath lamellar was separated and axonal myelin loose in the test group at 6th month. Myelin sheath amellar separation and edema under the epineurium were found in the group of 80 Gy and 120 Gy.

CONCLUSIONSThe ultrastructure of the facial nerve is damaged by the dosage of 40 Gy, 80 Gy brachytherapy with (125)I seeds. The higher dosage the nerve receives, the more serious the damage will be. Both of the epineurium and axonal myelin sheath are integral and continuous 6 months after operation with dosage of 120 Gy.

Animals ; Brachytherapy ; Dose-Response Relationship, Radiation ; Facial Nerve ; radiation effects ; ultrastructure ; Female ; Iodine Radioisotopes ; administration & dosage ; radiation effects ; Male ; Rabbits ; Radiation Injuries, Experimental ; pathology ; Random Allocation

OBJECTIVETo study the clinical features and to identify homeobox D13 (HOXD13) gene mutation of the affected individuals in a Chinese synpolydactyly (SPD) kindred.

METHODSClinical data and peripheral blood samples of SPD family members were obtained through field investigation. For every member of this pedigreeìthe fragment containing mutational hot spots of HOXD13 was amplified by PCR for mutation screening. To examine whether there is any other mutation within coding sequence of HOXD13, exon 1 and exon 2 of HOXD13 were also amplified by PCR. All the amplified fragments were electrophoresed on 2% agarose gels and then the mutant fragments were electrophoresed on 5% polyacrylamide gels to be separated. Purified PCR products of normal and selected mutant alleles were directly sequenced.

RESULTSComparing the HOXD13 coding sequence of the affected individuals with HOXD13 sequence in the GenBank and with that of the unaffected, an inserted segment coding 8 alanine residues within HOXD13 was found segregating with the disorder. This mutation is also termed polyalanine expansion. The 8-alanine expansion can be interpreted as a reduplication of normal alanines 5-12.

CONCLUSIONThe results suggest that synpolydactyly in this kindred may be caused by polyalanine expansion in HOXD13.

Base Sequence ; China ; DNA Mutational Analysis ; Female ; Homeodomain Proteins ; genetics ; Humans ; Infant ; Male ; Molecular Sequence Data ; Mutation ; Pedigree ; Polymerase Chain Reaction ; Syndactyly ; genetics ; Transcription Factors ; genetics