Animals ; Colorectal Neoplasms ; blood ; etiology ; Humans ; Hyperinsulinism ; blood ; complications ; Insulin ; blood ; Insulin Resistance ; Insulin-Like Growth Factor Binding Proteins ; blood ; Insulin-Like Growth Factor I ; metabolism ; Metabolic Syndrome ; blood ; complications ; Receptor, IGF Type 1 ; blood ; Receptor, Insulin ; blood

Adenomatous Polyposis Coli ; genetics ; metabolism ; pathology ; Bone Morphogenetic Protein Receptors, Type I ; genetics ; metabolism ; Colorectal Neoplasms, Hereditary Nonpolyposis ; genetics ; metabolism ; pathology ; Genes, APC ; Genetic Predisposition to Disease ; Hamartoma Syndrome, Multiple ; genetics ; metabolism ; pathology ; Humans ; Microsatellite Instability ; Mutation ; PTEN Phosphohydrolase ; genetics ; metabolism ; Peutz-Jeghers Syndrome ; genetics ; metabolism ; pathology ; Protein-Serine-Threonine Kinases ; genetics ; metabolism ; Proto-Oncogene Proteins B-raf ; genetics ; metabolism

Digestive System Neoplasms ; classification ; pathology ; surgery ; Lymphoma ; classification ; pathology ; surgery ; Neoplasm Staging ; Pathology ; trends ; Pathology, Surgical ; trends ; Urogenital Neoplasms ; classification ; pathology ; surgery ; World Health Organization

OBJECTIVES: To calculate the likelihood ratios of incest cases using identity by descent (IBD) patterns. METHODS: The unique IBD pattern was formed by denoting the alleles from the members in a pedigree with a same digital. The probability of each IBD pattern was obtained by multiplying the prior probability by the frequency of non-IBD alleles. The pedigree likelihoods of incest cases under different hypotheses were obtained by summing all IBD pattern probabilities, and the likelihood ratio(LR) was calculated by comparing the likelihoods of different pedigrees. RESULTS: The IBD patterns and the formulae of calculating LR for father-daughter incest and brother-sister incest were obtained. CONCLUSIONS The calculations of LR for incest cases were illustrated based on IBD patterns.
Male ; Humans ; Incest ; Siblings ; Probability

OBJECTIVE: To obtain the genetic polymorphism data of Guangxi, Hunan, Henan, Sichuan, Taiwang Chinese Han population and compare the polymorphism of PentaD and PentaE STR locus. METHODS: The two loci was analyzed by using the PowerPlex 16 System. RESULTS: 10 alleles of PentaD and 19 alleles of PentaE were found in the five Han population. PentaD and PentaE have the expected heterozygosity values of 0.7746-0.8047 and 0.9005-0.9219, the polymorphism information content values of 0.7710-0.8025 and 0.8969-0.9176, the discrimination power values of 0.9223-0.9341 and 0.9471-0.9782, the power of exclusion values of 0.5435-0.6325 and 0.6785-0.8465, respectively. CONCLUSION The result showed that these two loci were highly informative and suitable for forensic application.
Alleles ; China/ethnology* ; Chromosomes, Human, Pair 15 ; Chromosomes, Human, Pair 21 ; Forensic Medicine ; Gene Frequency ; Heterozygote ; Humans ; Mutation ; Polymorphism, Genetic ; Tandem Repeat Sequences

OBJECTIVETo devise a multiplex PCR system of three X-chromosome specific short tandem repeat (X-STR) loci and study the genetic polymorphism.

METHODSDXS6799, DXS6804 and DXS6854 were amplified simultaneously using a multiplex system and were typed by polyacrylamide gel electrophoresis and silver staining.

RESULTSA total of 262 male and 255 female individuals from Guangdong Han population were tested; each locus showed 7 alleles. 73 haplotypes were detected in the male individuals. The haplotype diversity reached 0.9674.

CONCLUSIONThe 3 X-STR multiplex system is relatively abundant in polymorphic information for forensic identification and paternity testing.

Chromosome Mapping ; Chromosomes, Human, X ; Female ; Gene Amplification ; Haplotypes ; Humans ; Male ; Paternity ; Polymorphism, Genetic ; Tandem Repeat Sequences

OBJECTIVETo identify the differentially expressed proteins or peptides and potential biomarkers of tumorigenesis for colorectal cancers.

METHODSImmobilized pH gradient two-dimensional gel electrophoresis (2-DE) was used to separate and obtain the differentially expressed protein spots between colorectal cancers and matched normal mucosa. Liquid chromatography/mass spectrometry (LC-MS/MS) was used to characterize these proteins. Selected candidate proteins were further studied by Western blot, semi-quantitative RT-PCR and immunohistochemical staining.

RESULTSThirty-five protein spots showed marked expression changes (more than 5-fold) in colorectal carcinoma compared to normal mucosa. Fifteen proteins were up regulated and 20 were down regulated. Fourteen of these proteins were identified by tandem mass spectrometry, among which secretagogin (SCGN) was down-regulated and glucose-related protein (GRP) 78 was up-regulated in the tumors. The SCGN down-regulation was further supported by Western blot and RT-PCR analyses. Immunohistochemistry revealed that SCGN was strongly expressed in neuroendocrine cells of the colonic crypts and 53 of 54 (98%) neuroendocrine tumors. At protein level, although GRP78 was up regulated in colorectal carcinoma, there was no difference in the mRNA expression level between the tumor and paired normal mucosa.

CONCLUSIONSThe 2-DE combined with MS is a powerful tool for screening potential tumor biomarkers. The differentially expressed candidate proteins identified by 2-DE may be of significance in understanding the tumorigenesis of the colon cancer. SCGN is a potential biomarker for neuroendocrinal differentiation. GRP78 up-regulation in colorectal carcinomas may be related to its post-translational modification.

Biomarkers, Tumor ; genetics ; metabolism ; Calcium-Binding Proteins ; genetics ; metabolism ; Colorectal Neoplasms ; metabolism ; Electrophoresis, Gel, Two-Dimensional ; Gene Expression Profiling ; methods ; Gene Expression Regulation, Neoplastic ; Heat-Shock Proteins ; genetics ; metabolism ; Humans ; Immunohistochemistry ; Molecular Chaperones ; genetics ; metabolism ; Neuroendocrine Cells ; metabolism ; Neuroendocrine Tumors ; metabolism ; Proteomics ; methods ; RNA, Messenger ; metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; Secretagogins

OBJECTIVETo describe the fine needle aspiration cytology (FNAC) features of various salivary gland lesions and to analyze the respective diagnostic value and pitfalls.

METHODS113 FNAC specimens of salivary gland lesions were reviewed and correlated with clinical and histopathologic findings.

RESULTSThe FNAC diagnostic failure (2); non-neoplastic lesions (12); benign neoplasm (82) and malignant neoplasm (17). Cytologically, the distinction between cellular pleomorphic adenoma, adenoid cystic carcinoma and basal cell adenoma could be difficult due to their overlapping morphologic features. The cytologic patterns of primary lymphoepithelial carcinoma of the parotid were indistinguishable from those of metastatic nasopharyngeal undifferentiated carcinoma. The ultimate distinction relied on clinical correlation. The three inaccurately diagnosed cases of FNAC are, as follows: reactive lymphoid hyperplasia of lymph node mistaken as non-Hodgkin lymphoma, mucoepidermoid carcinoma diagnosed as "scanty atypical cells present" and primary lymphoepithelial carcinoma mistaken as benign lymphoepithelial lesion. On the basis of FNAC, 97.4% (110 /113) were correctly depicted as benign (95/96; 99.0%) or malignant (15/17; 88.2%). Furthermore, 90.3% (102 /113) (specificity = 91.9%; 102/111) were accurately diagnosed, including 91.7% (88/96) benign lesions (specificity = 92.6% ; 88/95) and 82.4% (14/17) malignant tumors (specificity = 87.5%; 14/16).

CONCLUSIONSFNAC is reliable in distinguishing benign and malignant salivary gland lesions. A specific cytologic diagnosis is often possible. On the other hand, due to the pitfalls in cytologic diagnosis of certain salivary gland tumors, tissue biopsy for histologic examination may be necessary.

Adenolymphoma ; pathology ; Adenoma ; pathology ; Adenoma, Pleomorphic ; pathology ; Adolescent ; Adult ; Aged ; Biopsy, Fine-Needle ; Carcinoma, Adenoid Cystic ; pathology ; Carcinoma, Mucoepidermoid ; pathology ; Carcinoma, Squamous Cell ; pathology ; Child ; Diagnosis, Differential ; Diagnostic Errors ; Female ; Humans ; Male ; Middle Aged ; Parotid Neoplasms ; pathology ; Retrospective Studies ; Salivary Gland Neoplasms ; pathology ; Salivary Glands ; pathology ; Submandibular Gland Neoplasms ; pathology

OBJECTIVE: To introduce a method of calculating the paternity index (PI) for autosomal codominant markers when the mutation is encountered. METHODS: Assuming mutation arises with a mutational probability before an allele segregates and transmits to child with 1/2 chance, the probability of a random man giving an allele to child is the allele frequency in population. Considering only one mutation event in one case, the mutant allele can be determined by comparing the allele between parents and child. Furthermore, the probability of child's genotype can be calculated to identify the father between a tested man and a random male. Subsequently, the PI can be calculated. RESULTS: Formula of PI was deduced for trios, duos and missing child cases, including maternal mutation. CONCLUSION The method is easy to understand and useful in paternity testing.
Algorithms ; Alleles ; Chromosomes, Human ; Consanguinity ; Female ; Forensic Genetics/methods* ; Gene Frequency ; Genotype ; Humans ; Male ; Mutation ; Paternity ; Probability ; Tandem Repeat Sequences/genetics*

OBJECTIVE: To introduce a new method for calculating the paternity index (PI). METHODS: Assuming that each allele from parents has undergone a transition before it segregates and transmits to child. The transition probability is 1 when parent allele is the same as child's, the transition probability is 0 when parent allele is different from the child's. Every allele has a transmission probability with 0.5. Base on these theories, it is easy to gain the probability that child inherits an allele from the alleged father or mother. Thus, the X value (numerator) and Y value (denominator) of PI formula can be calculated, as unknown man provide an allele for child with the allele frequency. RESULTS: A general formula that calculated the PI for trios, duos and missing child cases was deduced. CONCLUSION The new method is practical in all kinds of forensic paternity case.
Algorithms ; Alleles ; Child ; Female ; Forensic Genetics ; Gene Frequency ; Genotype ; Humans ; Likelihood Functions ; Male ; Parent-Child Relations ; Paternity