RESUMEN
Chromosomal microarray analysis (CMA) is a technique for screening numerical and structural abnormalities of chromosomes at the whole genome level. It is a routine tool for pediatric and prenatal genetic diagnoses. It has also been applied to investigate the genetic etiologies of miscarriages. In our study, we used the CMA technology to analyze the chromosomal variations of fetuses from miscarriages at the whole genome level, and to evaluate its clinical applications in studies of miscarriages. The CMA analyses were performed on 2600 miscarriage specimens, of which 2505 specimens (96.35%) were successfully analyzed. Among them, 1021 specimens were analyzed with CytoScan Optima chip; 1211 specimens were analyzed with CytoScan 750K chip; and 273 cases were analyzed with CytoScan HD chip. Chromosomal abnormalities were identified in 967 specimens (38.6%) by these 3 kinds of chips, of which 506 specimens (50.00%) were detected with CytoScan Optima chip; 388 specimens were detected by CytoScan 750K chip (32.00%); and 73 cases (26.74%) were detected in CytoScan HD chip. Among the 967 cases of chromosomal abnormalities, 801 cases (82.83%) were numerical chromosomal abnormalities; 94 cases (9.72%) were structural abnormalities; 56 cases (5.79%) were mosaicisms; and 16 (1.65%) were regions of homozygosity. Our research suggests that CMA is a reliable, robust, and high-resolution technology for genetic diagnosis of miscarriage in clinical practice, which can also provide results as guidance for the risk assessment of assisted fertility.
Asunto(s)
Aborto Espontáneo/genética , Cromosomas Humanos/genética , Adulto , Pueblo Asiatico/genética , China , Aberraciones Cromosómicas , Variaciones en el Número de Copia de ADN , Femenino , Humanos , Análisis por Micromatrices , Embarazo , Adulto JovenRESUMEN
OBJECTIVE: To investigate the role of STK15 gene amplification and overexpression to genesis and development of laryngeal squamous cell carcinoma (LSCC). METHODS: STK15 gene amplification in 40 cases carcinoma tissues and normal tissues as control was detected by differential PCR approach. STK15 mRNA and protein levels were evaluated by reverse transcription-polymerase chain reaction (RT-PCR) and immunohistochemistry method. RESULTS: In 40 LSCC cases, STK15 gene amplification was found in 14 tumor tissues(35%), mRNA overexpression in 27 tumor tissues(67.5%), and protein upregulated in 29 tumor tissues(72.5%). Statistics analysis showed that STK15 gene amplification and mRNA overexpression were obviously associated to differentiation degree of LSCC, and protein overexpression was closely associated with both differentiation degree and pathological grades of LSCC. CONCLUSION: This research results suggest that STK15 gene amplification contributes to its mRNA and protein overexpression through affecting the exact replication of centrosome and separation of chromosomes. STK15 gene thus plays a role in LSCC oncogenesis and malignant progression.