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

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

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

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

OBJECTIVE: To explore the application of X-chromosomal STR(X-STR) for forensic identification and paternity testing. METHODS: Six X-STR loci DXS6801, DXS9902, DXS6809, DXS6803, DXS6804 and DXS6799 were amplified in a single PCR reaction. PCR products were analyzed using capillary electrophoresis and 3100 Genetic Analyzer and GeneMapper ID v3.1 Analysis Software. RESULTS: The alleles of all six X-STR loci were successfully obtained with unambiguous genotyping, high sensitivity and reproducibility. CONCLUSION The multiplex PCR of six X-STR loci is useful in forensic identification, particularly for sisters cases.
Alleles ; Chromosomes, Human, X/genetics* ; DNA Primers ; Female ; Fluorescence ; Forensic Genetics/methods* ; Gene Amplification ; Gene Frequency ; Genetic Loci/genetics* ; Genotype ; Humans ; Microsatellite Repeats/genetics* ; Paternity ; Polymerase Chain Reaction/methods* ; Reproducibility of Results ; Sensitivity and Specificity

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 evaluate the optimal timing of hepatectomy for intrahepatic lithiasis complicated with acute cholangitis.

METHODSOne hundred and twenty-six patients with hepatolithiasis who had a history of acute cholangitis and underwent hepatectomy were reviewed retrospectively. According to the period between the surgery and last attack of acute cholangitis, 126 patients were divided into 3 groups: > 3 months (group A, n = 73), 1 approximately 3 months (group B, n = 28), < 1 month (group C, n = 25). The operation time, blood loss, hospital stay, postoperative complications and stone residual rate were compared among the groups.

RESULTSThe intraoperative blood loss of C group was (644.0 +/- 625.7) ml, which was significantly higher than those of A and B group [(409.2 +/- 250.7) ml and (423.2 +/- 237.1) ml, respectively]. The numbers of patients who needed transfusion and the amount of blood transfusion in group C were also higher than those of group A and B. The incidence rate of complications, residual stone in group C were all markedly higher than those of group A and B. The period of hospital stay in group C was much longer than that in group A and B.

CONCLUSIONSThe optimal timing of hepatectomy for hepatolithiasis complicated with acute cholangitis is at least one month after subsidence of cholangitis.

Adult ; Aged ; Bile Ducts, Intrahepatic ; Cholangitis ; complications ; Cholelithiasis ; complications ; surgery ; Female ; Hepatectomy ; methods ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Time Factors