Expression and Clinical Significance of Pin1 and CyclinD1 in Gastrointestinal Stromal Tumor / 中国医科大学学报

Objective To investigate the relationship between Pin1 and CyclinD1 expression and the development of gastrointestinal stromal tu?mor(GIST). Methods The protein and mRNA expression of Pin1 and CyclinD1 in 85 samples of GIST and adjacent non?cancerous tissues were detected by immunohistochemistry and real?time quantitative polymerase chain reaction. Results The expression rate of Pin1 protein in GIST tis?sues(64.7%;55/85)was higher than that in adjacent non?cancerous tissues(26.7%;4/15). Similarly,the expression rate of CyclinD1 protein in GIST tissues(42.3%;36/85)was higher than that in adjacent non?cancerous tissues(6.7%;1/15). The expression of Pin1 and CyclinD1 mRNA in GIST tissues was 7.03 and 5.53 times that in adjacent non?cancerous tissues ,respectively. There was no obvious correlation between the expres?sion of Pin1 and clinicopathological parameters. The expression of CyclinD1 was positively correlated with the grade of NIH and tumor diameter (P<0.05). There was a significant correlation between the expression of Pin1 and CyclinD1 in GIST tissues. Conclusion The expression of both Pin1 and CyclinD1 was up?regulated in GIST tissues. The significant correlation between the expression of Pin1 and CyclinD1 in GIST tissues sug?gests that their synergistic effect promotes carcinogenesis and the development of GIST.

Analysis of SRY gene in 8 cases of sex abnormality / 华中科技大学学报（医学）（英德文版）

In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. Fluorescence in situ hybridization (FISH) using PY3.4, X alpha satellite, and SRY probes was performed in each case to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries. In the patients negative for SRY, only one case presented testes, while 2 ovaries. Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY genes. FISH technique demonstrated that SRY genes translocated from Ypter to Xpter in 2 46,XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development.

Analysis of SRY gene in 8 cases of sex abnormality / 华中科技大学学报（医学）（英德文版）

In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. Fluorescence in situ hybridization (FISH) using PY3.4, X alpha satellite, and SRY probes was performed in each case to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries. In the patients negative for SRY, only one case presented testes, while 2 ovaries. Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY genes. FISH technique demonstrated that SRY genes translocated from Ypter to Xpter in 2 46,XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development.

Mutation identification in a 5-generation pedigree with autosomal dominant retinitis pigmentosa / 华中科技大学学报（医学）（英德文版）

An extended 5-generation family has been investigated in which 32 of the 111 family members were diagnosed as having retinitis pigmentosa (RP). The proband was a 58-year old male in whom night-blindness was first observed in early childhood, with almost loss of vision by 52 years of age. The symptoms observed in other family members included night-blindness, impaired vision and visual field loss. Dementia, digital abnormalities, deaf-mutism and mental retardation were variously diagnosed in a number of individuals with RP. The affected and unaffected family members were tested for mutations in a range of candidate genes. The 8 exons of three candidate genes have been analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing techniques. A novel mutation was identified in the rhodopsin gene at codon 52 of exon 1 (TTC-TAC) that resulted in a substitution of Phe to Tyr.

Mutation identification in a 5-generation pedigree with autosomal dominant retinitis pigmentosa / 华中科技大学学报（医学）（英德文版）

An extended 5-generation family has been investigated in which 32 of the 111 family members were diagnosed as having retinitis pigmentosa (RP). The proband was a 58-year old male in whom night-blindness was first observed in early childhood, with almost loss of vision by 52 years of age. The symptoms observed in other family members included night-blindness, impaired vision and visual field loss. Dementia, digital abnormalities, deaf-mutism and mental retardation were variously diagnosed in a number of individuals with RP. The affected and unaffected family members were tested for mutations in a range of candidate genes. The 8 exons of three candidate genes have been analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing techniques. A novel mutation was identified in the rhodopsin gene at codon 52 of exon 1 (TTC-TAC) that resulted in a substitution of Phe to Tyr.

Screening of candidate genes in a family with autosomal dominant retinitis pigmentosa / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the causative mutation in a 5 generation pedigree with autosomal dominant retinitis pigmentosa (ADRP).</p><p><b>METHODS</b>Genomic DNA from four patients and 4 normal persons in the same pedigree suffering ADRP were extracted, and subsequently eight exons of three ADRP candidate genes were screened for mutations by a combined polymerase chain reaction-single strand conformation polymorphism and DNA sequencing techniques.</p><p><b>RESULTS</b>A new point mutation in rhodopsin gene at codon 52 of exon 1 (TTC to TAC) that resulted in a substitution of Tyr to Phe was detected in the four affected family members, but not in the four control individuals from the same pedigree.</p><p><b>CONCLUSION</b>A causative mutation of rhodopsin gene was identified in a large Chinese pedigree with ADRP. The present study confirmed the molecular genetic heterogeneity of ADRP.</p>