OBJECTIVETo develop a rapid and reliable technique for the detection of Down's syndrome.

METHODSThe peripheral blood samples were collected from twenty-five Down's syndrome patients and fifty normal individuals. Four polymorphic loci on chromosomes 21, 1, 19 were amplified by real-time fluorescence quantitative PCR, and then four pairs of deltaCt values were analytically compared between the two groups.

RESULTSThe deltaCt values of Down's syndrome patients were significantly lower than those of normal individuals, and the reference ranges for clinical application were primarily established. The difference between the two groups was highly significant (P < 0.001), and the reference ranges between the two groups were not overlapped. Real-time quantitative PCR technique can effectively differentiates Down's syndrome samples from the normal fetuses; furthermore, the results were consistent with those of the karyotype analysis.

CONCLUSIONReal-time quantitative PCR is a fast and reliable method that may provide a new approach for rapid detection of Down's syndrome.

Chromosomes, Human, Pair 1 ; genetics ; Chromosomes, Human, Pair 19 ; genetics ; Chromosomes, Human, Pair 21 ; genetics ; Down Syndrome ; diagnosis ; genetics ; Humans ; Polymerase Chain Reaction ; methods ; Reproducibility of Results

OBJECTIVETo investigate molecular genetic alterations associated with primary and corresponding recurrent glioblastoma multiforme(GBM) and to identify which chromosomal regions of the whole genome may be involved in the recurrence of primary GBM.

METHODSA high-resolution allelotyping study of one patient's primary GBM and corresponding recurrent GBM was performed by PCR-based loss of heterozygosity(LOH) analysis with the use of 382 fluorescent dye-labeled polymorphic microsatellite markers covering all 22 autosomes. The mean genetic distance between two flanking markers is 10 cM.

RESULTSLOH at locus D9S157 on 9p21 and at loci D10S537, D10S185, D10S192, D10S597, D10S587, D10S217 on 10q21.3-26.3 was observed in the primary GBM. As for corresponding recurrent tumor, LOH was observed not only in expanded regions on 9p21 and 10q21.3-26.3 but also on multiple other chromosomal arms, including 1q, 7p,7q, 21q, 20p, 20q, 10p, 19p, 19q.

CONCLUSIONChromosome 9p and 10q may be involved in the development of this GBM. Although histopathological diagnoses of the primary and corresponding recurrent tumor are identical, the recurrence of GBM is characterized by an increased involvement of molecular genetic abnormalities and may be accompanied by inactivation of more tumor suppressor genes.

Adult ; Alleles ; Chromosome Mapping ; methods ; Chromosomes, Human, Pair 1 ; genetics ; Chromosomes, Human, Pair 10 ; genetics ; Chromosomes, Human, Pair 19 ; genetics ; Chromosomes, Human, Pair 20 ; genetics ; Chromosomes, Human, Pair 21 ; genetics ; Chromosomes, Human, Pair 7 ; genetics ; Chromosomes, Human, Pair 9 ; genetics ; DNA ; genetics ; Female ; Glioblastoma ; genetics ; pathology ; surgery ; Humans ; Loss of Heterozygosity ; Microsatellite Repeats ; Neoplasm Recurrence, Local

OBJECTIVETo explore the value of fluorescence in situ hybridization (FISH) and multiplex fluorescence in situ hybridization (M-FISH) techniques in the detection of genetic changes in chronic myeloid leukemia (CML) with variant Philadelphia translocation (vPh).

METHODSCytogenetic preparations from 10 CML patients with vPh confirmed by R banding were assayed with dual color dual fusion FISH technique. If only one fusion signal was detected in interphase cells, metaphase cells were observed to determine if there were derivative chromosome 9[der (9)] deletions. Meanwhile, the same cytogenetic preparations were assayed with M-FISH technique.

RESULTSOf the 10 CML patients with vPh, 5 were detected with der (9) deletions by FISH technique. M-FISH technique revealed that besides the chromosome 22, chromosomes 1, 3, 5, 6, 8, 10, 11 and 17 were also involved in the vPh. M-FISH technique also detected the abnormalities which were not found with conventional cytogenetics (CC), including two never reported abnormalities.

CONCLUSIONThe combination of CC, FISH and M-FISH technique could refine the genetic diagnosis of CML with vPh.

Adult ; Aged ; Chromosomes, Human, Pair 1 ; genetics ; Chromosomes, Human, Pair 10 ; genetics ; Chromosomes, Human, Pair 11 ; genetics ; Chromosomes, Human, Pair 17 ; genetics ; Chromosomes, Human, Pair 22 ; genetics ; Chromosomes, Human, Pair 3 ; genetics ; Chromosomes, Human, Pair 5 ; genetics ; Chromosomes, Human, Pair 6 ; genetics ; Chromosomes, Human, Pair 8 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; diagnosis ; genetics ; Male ; Middle Aged ; Reproducibility of Results ; Sensitivity and Specificity ; Translocation, Genetic ; genetics ; Young Adult

OBJECTIVE: To detect of chromosomal abnormalities in multiple myeloma (MM) patients with fluorescence in situ hybridization (FISH). METHODS: FISH was performed in 20 MM patients using 5 specific DNA probes. The difference in chromosomal abnormalities was compared by FISH and other routine cytogenetic tests. RESULTS: Eighteen of the 20 patients showed chromosomal abnormalities (90%). The positive rates of t(14q32), del(13q14), dup(1q21), and p53 gene were 65% (13 in 20), 55% (11 in 20), 25% (5 in 20), and 15%(3 in 20), respectively. The abnormal rate of the conventional chromosome examination was 15% only. CONCLUSION FISH is more sensitive than traditional chromosomal tests and can be used as an index in prognostic evaluation for MM. Del(13q14) and t(14q32) are the most common chromosomal abnormalities in MM patients.
Chromosome Aberrations ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 14 ; Humans ; In Situ Hybridization, Fluorescence ; Multiple Myeloma ; genetics ; Prognosis

The understanding of genetic factors contributed to the susceptibility or severity of rheumatoid arthritis (RA) might give new insights into the pathways involved in disease pathogenesis and lead to the identification of novel therapeutic targets. However, a lot of published case-control association studies could not demonstrate the conclusive results due to the lack of reproducibility, small sample size, poor study design, incorrect assumption, and ethnic diversity. Recently, several genome-wide scan using affected sibling pairs and following candidate gene approaches have been performed to unravel the complex association of rheumatoid arthritis with the human leukocyte antigen (HLA) gene region, non-HLA major histocompatibility region within chromosome 6, and the other chromosomes such as chromosome 1. This review summarizes the importance of genetic studies in RA, and the variable methods of genetic studies and their results.
Arthritis, Rheumatoid* ; Case-Control Studies ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 6 ; Genetics ; Histocompatibility ; Humans ; Leukocytes ; Sample Size ; Siblings

OBJECTIVETo perform genetic analysis of a complex chromosome rearrangement (CCR) 46,XY, t(3;11)(q27; q13), ins(11;3)(q13;p26p13) in an azoospermic man.

METHODSPeripheral blood lymphocytes we re obtained for karyotyping, and metaphases were studied by multicolor fluorescence in situ hybridization procedure, Y chromosomal microdeletions in the azoospermia factor (AZF) region were analyzed with multiplex polymerase chain reaction.

RESULTSThe case was a complex chromosomal translocation between chromosomes 3 and 11 with four breakpoints, and accompanied with a band of chromosome 3 inserting into chromosome 11. No Y-chromosome microdeletions were identified at 6 STS sequences of the AZF loci.

CONCLUSIONCCR can have a significant impact on male fertility. Molecular cytogenetic techniques may contribute to improving and personalizing reproductive counseling.

Adult ; Azoospermia ; genetics ; Chromosome Breakage ; Chromosome Deletion ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 3 ; Chromosomes, Human, X ; Chromosomes, Human, Y ; DNA ; analysis ; Humans ; Karyotyping ; Male ; Translocation, Genetic

OBJECTIVETo investigate the common chromosome abnormalities of the patients with multiple myeloma in China and the relationships of cytogenetic abnormalities and clinical features.

METHODSIn interphase fluorescence in-situ hybridization (FISH) analysis, a panel of probes including D13S319 (13q14.3), RB1(RB1 gene), IgH (14q32), P53(17p13), 1q21(1q21 gene) was used to study the cytogenetic abnormalities of 31 patients with multiple myeloma; and the clinical implications of cytogenetic abnormalities were investigated.

RESULTThe frequencies of the partial deletion of chromosome 13, translocation involving the 14q32 region, abnormalities in 1q21 and deletion of 17p13 were 45%, 68%, 50%, and 35% in the study, respectively. The abnormalities of both the partial deletion of chromosome 13 and translocation involving the 14q32 region were found in 35% of the patients. 79% of the patients with del (13q) had 14q32 translocations simultaneously. All the patients with positive detection of probe D13S319 were found to have translocation of 14q32 at the same time. There were correlations between the partial deletion of chromosome 13 and translocation involving the 14q32 region. The overall response rate of induction treatment was 67.7%. No significant difference was found in patients with positive or negative cytogenetic abnormalities of del(13q), 14q32 translocation, del(17p13), and 1q21 abnormalities.

CONCLUSION13q deletion, IgH rearrangement, chromosome 1 abnormality and 17p13 deletion are the common cytogenetic abnormalities of MM patients in China. There is a significant correlation between the presence of 14q32 translocations and chromosome 13 deletion in MM patients.

Adult ; Aged ; Chromosome Deletion ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 17 ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Middle Aged ; Multiple Myeloma ; genetics ; Translocation, Genetic

OBJECTIVESTo find possible factors correlated with combined loss of heterozygosity (LOH) of 1p and 19q.

METHODSThe status of 1p and 19q of 138 glioma specimen from January 2009 to December 2009 was evaluated by Fluorescence in situ hybridization (FISH) method, and the frequencies of combining LOH of 1p/19q were compared between different pathologies, brain sub-regions, genders and ages.

RESULTSThe frequencies of combined LOH of 1p and 19q of oligodendroglial (81.3%) and oligo astrocytic tumors (55.8%) were significantly higher than that of astrocytic tumor (22.2%) (P < 0.01), and the frequency of oligodendroglial tumor was significantly higher than that of oligo astrocytic tumor (P < 0.05). The frequency of combining LOH of 1p and 19q in frontal lobe (61.8%) was higher than that in temporal (31.8%) and insular lobes (34.6%) (P < 0.05).

CONCLUSIONCombining LOH of 1p and 19q has significant correlation with the pathologies and brain sub-regions.

Adolescent ; Adult ; Aged ; Brain Neoplasms ; genetics ; Chromosomes, Human, Pair 1 ; genetics ; Chromosomes, Human, Pair 19 ; genetics ; Female ; Glioma ; genetics ; Humans ; Loss of Heterozygosity ; Male ; Middle Aged ; Young Adult

OBJECTIVESTo investigate the relationship between chromosome balanced translocation t(1;12) (q24;q24) and spermatogenesis in infertile twin brothers.

METHODSFor twin brothers, karotype were determined. The levels of testosterone, FSH and LH were detected. YRRM1, DAZ and DYS240 were analyzed. In younger brother a biopsy was taken from testis.

RESULTSChromosome analysis for both twin brothers revealed a karotype of 46, XY, t(1;12) (q24;q24). Sperm count was less than 1.0 x 10(6)/ml. There was no deletion for YRRM1, DAZ and DYS240 gene on Y chromosome. Photomicrograph of seminiferous tubules showed the arrest of spermatogenesis.

CONCLUSIONSChromosome balanced translocation t(1;12) (q24;q24) may be the cause of the spermatogenesis arrest in infertile twin brothers. Gene in the point of translocation may be related to spermatogenesis.

Adult ; Biopsy ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 12 ; Diseases in Twins ; genetics ; Humans ; Infertility, Male ; genetics ; Male ; Spermatogenesis ; genetics ; Testis ; pathology ; Translocation, Genetic ; genetics

OBJECTIVE: To identify the Epstein-Barr virus (EBV) chromosomal integration sites in Raji cells. METHODS: EBV DNA was detected by Southern hybridization, and the viral chromosomal integration sites were identified using G banding and fluorescence in situ hybridization (FISH). RESULTS: BamHI-digested genomic DNA from Raji cells was hybridized with (32)P-labeled probe-1 (EBV genome 13,232 approximately 16,189) and Probe-2 (EBV genome 5 approximately 3,271), which generated 4 and 10, 23 kb positive bands respectively. The viral integration sites included 1p, 1q, 2q, 3p, 3q, 4 q, 5q, 6q, 7p, 7q, 9q,11p, 14 q, and 15q,and chromosomal bands 4 q, 2q, 1q and 7q were viral integration sites with high frequencies. Among the 33 signals counted, 7, 4, 4,and 4 signals were at the site 4 q, 2q, 1q, and 7q respectively, and 64% of the total signals were found in these 4 chromosomal bands. No viral integration occurred in chromosomes 16 approximately 22 or the sex chromosomes (X, Y). CONCLUSION This study firstly identifies the EBV integration sites in Raji cells using G banding and FISH. There are some viral integration sites with high frequencies in Raji cells, and EBV integrates into Raji cell genomes non-randomly.
Burkitt Lymphoma ; genetics ; pathology ; virology ; Cell Line, Tumor ; Chromosomes, Human, Pair 1 ; virology ; Chromosomes, Human, Pair 2 ; virology ; Chromosomes, Human, Pair 4 ; virology ; DNA, Viral ; genetics ; Genome, Viral ; Herpesvirus 4, Human ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Virus Integration ; genetics