No abstract available.
Pregnancy*

Serum is free of cellular components. Because DNA is located in the nuclei or mitochondria of cells, serum could be assumed DNA free. Few previously published case reports to date have used serum for DNA typing. Here, we report on human genotyping via short tandem repeat (STR) analysis using serum as a sample, and discuss problems involved in the process.
DNA Fingerprinting* ; DNA* ; Humans ; Microsatellite Repeats* ; Mitochondria

We report a case of B-cell chronic lymphocytic leukemia (CLL) with trisomy 12 detected by FISH using chromosome 12 alpha-satellite Probe (Oncor , USA) in uncultured interphase cells. Chromosome studies did not produce an analyzable metaphase by standard short term culture and revealed only normal female karyotype by B cell mitogen (phorbol 12-myristate 13-acetate) stimulated 96 hr culture. The patient, a 59-year-old female, did not have hepatomegaly, splenomegaly, lymphadenopathy and any other symptoms. The peripheral blood of the patient showed marked lymphocytosis (WBC : 28,300/microL, Lymphocyte: 80%) and the diagnosis by immunophenotyping was B cell CLL:CD5, CDl9, CD2O, SmIg, HLA-DR positive.
Chromosomes, Human, Pair 12 ; Diagnosis ; Female ; Fluorescence* ; Hepatomegaly ; HLA-DR Antigens ; Humans ; Immunophenotyping ; In Situ Hybridization* ; Interphase ; Karyotype ; Leukemia, Lymphocytic, Chronic, B-Cell* ; Lymphatic Diseases ; Lymphocytes ; Lymphocytosis ; Metaphase ; Middle Aged ; Splenomegaly ; Trisomy*

We report a case of B-cell chronic lymphocytic leukemia (CLL) with trisomy 12 detected by FISH using chromosome 12 alpha-satellite Probe (Oncor , USA) in uncultured interphase cells. Chromosome studies did not produce an analyzable metaphase by standard short term culture and revealed only normal female karyotype by B cell mitogen (phorbol 12-myristate 13-acetate) stimulated 96 hr culture. The patient, a 59-year-old female, did not have hepatomegaly, splenomegaly, lymphadenopathy and any other symptoms. The peripheral blood of the patient showed marked lymphocytosis (WBC : 28,300/microL, Lymphocyte: 80%) and the diagnosis by immunophenotyping was B cell CLL:CD5, CDl9, CD2O, SmIg, HLA-DR positive.
Chromosomes, Human, Pair 12 ; Diagnosis ; Female ; Fluorescence* ; Hepatomegaly ; HLA-DR Antigens ; Humans ; Immunophenotyping ; In Situ Hybridization* ; Interphase ; Karyotype ; Leukemia, Lymphocytic, Chronic, B-Cell* ; Lymphatic Diseases ; Lymphocytes ; Lymphocytosis ; Metaphase ; Middle Aged ; Splenomegaly ; Trisomy*

PURPOSE: To classify the cavernous sinus lesions, to describe their radiological findings, and to assess the usefulness of MR compared to CT. METHODS AND MATERIALS: Fourty-five patients with lesions involving the cavernous sinus proved by histological and/or clinical and imaging methods were studied retrospectively and classified into neoplastic, vascular, and inflammatory lesions. CT and MR findings were compared in 21 patients evaluated by both modalities simultaneously according to these 4 categories. RESULTS: Pitiutary macroadenoma was the most common cavernous sinus lesion(42%). Diffuse convex bulging of the lateral wall of cavernous sinus was the most frequent radiological finding(84%), and the others were encasement of the cavernous carotid artery(49%), remodelling of the surrounding bones(44%), and complete obliteration of Meckel's cave(38%), in descending order of frequency. Bulging of the lateral wall of cavernous sinus was equally well demonstrated on both modalities, but encasement or displacement of the cavernous carotid artery and complete or partial obliteration of Meckel's cave were much better delineated on MR than on CT with the ratio of 3.8:1 and 4.6: 1, respectively. Only bone changes were much better demonstrated on CTthan on MR with the ratio of 3.8: 1. CONCLUSION: MR issuperior to CTin demonstrating thecavernouscarotid artery encasement and obliteration of Meckel's cave, but CT is much better than MR in demonstrating bone changes.
Arteries ; Carotid Arteries ; Cavernous Sinus* ; Humans ; Retrospective Studies

DNA profiling with sets of short tandem repeat (STR) markers is the most popular method for identifying human DNA in forensics. Identification by STR typing might fail when DNA is degraded or is present in low amounts, such as in disaster victim identification (DVI) samples. In such cases, more information might be obtained by using additional markers such as single nucleotide polymorphisms (SNPs). Multiplex PCR and microarray are convenient techniques to analyze SNP markers. We used an AccuID(TM) Chip, SNP-based DNA chip manufactured by DNA Link Corporation, to confirm genetic relationship between two human bone samples that had been buried for more than 50 years and blood samples from the alleged descendants of the sources of the bone fragments. The chip combines an Affymetrix resequencing array with a multiplex PCR technology and can genotype hundreds of SNP markers in a single experiment. Genotyping the two bone samples yielded 90.5 and 77 SNP markers. The commonly genotyped markers (61 and 47 SNP loci) in each bone-family pair provided high paternity indices to support the genetic relationships in both cases.
Disasters ; DNA Fingerprinting ; DNA* ; Forensic Anthropology* ; Genotype ; Humans* ; Microsatellite Repeats ; Multiplex Polymerase Chain Reaction ; Oligonucleotide Array Sequence Analysis* ; Paternity ; Polymorphism, Single Nucleotide

Recently, studies on mitochondrial DNA (mtDNA) have increased rapidly. Conventional parameters, such as diversity index, pairwise comparison, are used to interpret and validate data on autosomal DNA; however, the use of these parameters to validate data from mitochondrial DNA databases (mtDNA DBs) needs to be verified because of the different transmission patterns of mtDNA. This study was done to verify the use of these conventional parameters and to test the "coverage concept" for a new parameter. The mtDNA DB is not very big; however, it is necessary to check how the change in parameters corresponds to the DB size. For this, we artificially rearranged a Korean DB into several small sub-DBs of variable sizes. The results show that the diversity in nucleotide variations and the different haplotype numbers do not vary as the size of DB increases. However, the "coverage" changed a lot. The coverage increased from 0.113 in a DB of 100 people to 0.260 in a DB of 653 people. Additionally, using the "coverage concept", we predicted how the total number of haplotypes changed with variations in the sub-DB size and compared the predicted result with final result. In conclusion, "coverage", in addition to conventional statistical parameters, can be used to check the usability of an mtDNA DB. Finally, we tried to predict the size of the whole mtDNA number in Korea using "saturation concept".
DNA ; DNA, Mitochondrial* ; Haplotypes ; Korea ; Phylogeny

Localized scleroderma is a connective-tissue disorder that is limited to the skin and subcutaneous tissue, sometimes involving muscles beneath the cutaneous lesions. Although it is usually a self-limiting disease, complications like growth failure, joint contractures, deformities and functional impairment may occur resulting in significant morbidity. Herein we report a 9-year-old girl who presented with hemiatrophy as a major clinical feature associated with widespread multiple hyperpigmented sclerotic plaques. The patient proved to be a relatively rare case of hemiatrophy secondary to extensive generalized morphea also having complicating features of joint contracture and growth failure of involved extremities.
Child ; Congenital Abnormalities ; Contracture ; Extremities ; Female ; Humans ; Joints ; Muscles ; Scleroderma, Localized* ; Skin ; Subcutaneous Tissue

In order to determine paternity by genetic testing, the Paternity Index (PI) and probability of paternity are calculated using likelihood ratio method. However, when it is necessary, additional testing can be performed to validate the genetic relationship. This research demonstrates autosomal short tandem repeat (STR) results of Jeju Island population in order to determine genetic relationship. Two notable cases showed that despite the acceptable PI value obtained from STR testing, average of 12 mismatches were found in total of 169 autosomal single nucleotide polymorphism typing. Such cases imply that cautious statistical approach is necessary when determining genetic relationship, especially within an isolated population group. Moreover, this would suggest that a further research and investigation are needed in order to understand the population structure of Korea.
Genetic Testing ; Humans ; Korea ; Microsatellite Repeats ; Oligonucleotide Array Sequence Analysis ; Paternity* ; Polymorphism, Single Nucleotide ; Population Groups

No abstract available.
Pierre Robin Syndrome*