Correlation of the oxidative stress indices and Cd exposure using a mathematical model in the earthworm, Eisenia fetida.

With the increase in heavy metal pollution, it is of great significance to evaluate the ecological security and early warning of cadmium (Cd) contaminated soil. In this paper, a mathematical model was established for the first time by combining the advantages of the factor analysis method and the analytic hierarchy process, and was used to screen and analyze the ecological indices of oxidative stress in earthworms under Cd exposure. The experiment lasted for 40 days, removing one earthworm every 10 days. The Cd2+ concentration gradient was set at 0, 1, 10, 20, 100, 200, 400 and 800 mg kg-1. The ecological indices measured were total protein (TP), peroxidase (POD), superoxide dismutase (SOD), glutathione peroxidase (GPX), glutathione-S-transferase (GST), catalase (CAT), acetylcholinesterase (AChE) and malondialdehyde (MDA) levels. The results showed that when the earthworm was exposed to Cd2+ for 10 days and 30 days, in the head tissues, the key indices to focus on for monitoring were both POD. At 20 days and 40 days, the key indices were both TP. For the tail tissue tests, under Cd exposure for 10 days, the key indicator focused on for monitoring was MDA. After 20 days of exposure, the key monitoring indicator was AChE. At 30 days, it was CAT, and at 40 days, it was TP. This study provides a theoretical basis for the prompt, inexpensive, accurate and scientific early warning of metal contaminated soils and establishes a foundation for application of the screening model for other ecological indicators.

Cytogenetic and molecular genetic analysis of the amniotic fluid cells of a fetus with pseudodicentric isochromosome 22 resulting in partial tetraploidy of 22q / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To diagnose chromosomal abnormalities in amniotic fluid cells by combining karyotyping and single nucleotide polymorphism array (SNP-array) analysis, and to explore the application of SNP-array in routine clinical practice.</p><p><b>METHODS</b>Conventional G banding was used to karyotype a fetal amniotic fluid sample and the corresponding peripheral blood samples from the parents, followed by SNP-array analysis of the fetal genomic DNA from the amniotic fluid.</p><p><b>RESULTS</b>The karyotype of the amniocytes was 47, XX, +mar. The marker chromosome was further identified as psu idic (22) (q11.2) by SNP-array analysis, revealing tetraploidy of a 1.7 Mb fragment in 22q11.1-q11.2 interval that involves the critical region for Cat eye syndrome.</p><p><b>CONCLUSION</b>A rare chromosomal abnormality was identified by combining conventional G banding and SNP-array. The high resolution SNP-array could provide more detailed information for determining the origin of chromosomal abnormalities.</p>

Effects of oxidative stress reaction for the Eisenia fetida with exposure in Cd2.

Earthworms are widely used in all kinds of pollutants as sensitive bio-indicator organisms because of their immediately oxidative stress response under the stress of heavy metal. However, there are a large number of indexes associated with the oxidative stress response. Finding out the key monitoring indexes in the stress process becomes a practical demand of the pollution monitoring and warning process. We studied two groups, the short-term test and the long-term test. The former one is for 10 days, taking out an earthworm every day. The latter test lasted 30 days, taking out an earthworm every 10 days. The Cd2+ concentration was set at 50, 100, 125, 250, and 500 mg kg-1. Post-clitellum segments of earthworms were chosen to determine superoxide enzyme (SOD), peroxidase (POD), glutathione peroxidase (GSH-Px), glutathione-S transferase (GST), catalase (CAT), vitamin E (VE), malondialdehyde (MDA), and acetylcholinesterase (AChE). The results showed that the main bio-indicators associating with oxidative stress reaction in short-term group were CAT, SOD, and POD. MDA could be used as a bio-indicator in the early and mid-term. VE was only the bio-indicator in the mid-term stress. While with the long-term test, the main bio-indicators associated with oxidative stress reaction were GSH-Px and MDA. The AChE activity was only suitable for oxidative stress response caused by heavy metal stress more than 30 days.

Molecular and cytogenetic study on 5 cases with gonadal dysgenesis: clinical applications of fluorescence in situ hybridization(FISH) and BAC-FISH / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the applications of fluorescence in situ hybridization (FISH) in the diagnosis for the patients with gonadal dysgenesis.</p><p><b>METHODS</b>After routine gynecologic examination, ultrasonography and endocrine examination, 5 cases of gonadal dysgenesis and hypogonadism were analyzed by using chromosomal diagnoses including G-banding, Q-banding, multiplex FISH and BAC-FISH analyses.</p><p><b>RESULTS</b>Among the 5 cases of gonad agenesis patients, 2 were pure gonadal dysgenesis with 46, XY karyotype, 3 were mixed gonadal dysgenesis with mos 45, X/47, XXX; 45, X/46, XY or 46, X, der(Y) karyotype.</p><p><b>CONCLUSION</b>Sex chromosomal abnormalities resulted in gonadal dysgenesis symptoms. Applications of FISH and BAC-FISH analyses can correctly diagnose the sex chromosomal abnormalities for patients with gonad agenesis and provide accurate medical genetic data for clinical diagnosis and therapy.</p>