Novel Mutations in the Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China.

Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in gene is a rare mitochondrial disease, and this disorder identified from the Chinese population has not been described thus far. Here, we report a case series of three patients with COXPD23 caused by mutations, from a severe to a mild phenotype. The main clinical features of these patients include lactic acidosis, myocardial damage, and neurologic symptoms.

[Analysis on the Genotype of 5018 Cases of Thalassemia in Hunan Area].

Objective: To investigate the type and distritution of thalassemia gene mutaitons in Hunan area, so as to provide evidence for prenatal screening, diagnosis and reduction of birth defects.

Methods: A total of 5018 cases from Maternal and Children Health Hospital of Hunan from June 2017 to Dec 2018 were undergone thalassemia gene mutation analysis. The reverse dot blot hydridization was used to detect 6 kinds of genotypes of α-thalassemia and 17 kinds of point mutations of β-thalassemia, and the detected data were analyzed statistically.

[Identification of a de novo interstitial 21q22.12q22.13 deletion in a patient with intellectual disability].

Objective: To explore the genetic basis of a child featuring intellectual disability, developmental delay and epilepsy.

Methods: Cytogenetic and molecular analysis including chromosomal karyotyping analysis, single nucleotide polymorphism array (SNP array) and qPCR were performed.

Results: The karyotype of the child was determined as 46, XX; SNP array: arr [19]21q22.

Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review.

Rationale: Carnitine-acylcarnitine translocate deficiency (CACTD) is a rare and life-threatening, autosomal recessive disorder of fatty acid β-oxidation characterized by hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy, liver dysfunction, and muscle weakness; culminating in early death. To date, CACTD cases screened from the Chinese mainland population, especially patient with compound heterozygote with c.199-10T>G and a novel c.

Predictable weathering of puparial hydrocarbons of necrophagous flies for determining the postmortem interval: a field experiment using Chrysomya rufifacies.

Preadult development of necrophagous flies is commonly recognized as an accurate method for estimating the minimum postmortem interval (PMImin). However, once the PMImin exceeds the duration of preadult development, the method is less accurate. Recently, fly puparial hydrocarbons were found to significantly change with weathering time in the field, indicating their potential use for PMImin estimates.

[Analysis of four fetuses with de novo chromosomal rearrangments using single nucleotide polymorphism microarray chips].

Objective: To assess the value of single nucleotide polymophism (SNP) microarray for delineation of de novo chromosomal rearrangements detected upon prenatal diagnosis.

Methods: SNP microarray analysis was carried out for 4 fetuses with de novo sSMCs or balanced reciprocal translocations. Genomic DNA was extracted from cord blood samples, and amplified, tagged and hybridized following the manufacturer's protocol.

[Polymorphisms and species specificity of D2S2944 and D1S2134 loci in Chinese Han population in Chengdu].

Objective: To obtain the data of polymorphism distribution of the two STR loci D2S2944, D1S2134 in Chinese Han population in Chengdu and evaluate their usefulness in the field of forensic science.

Methods: PCR, polyacrylamide gel electrophoresis (PAGE) and silver staining were used to analyze 120 unrelated individuals of Chinese Han ethnic group in Chengdu. Fourteen different animals: monkey, pig, dog, bull, goat, chicken, duck, fish, cat, rabbit, Guinea pig, mouse, eel and frog were selected as controls in this study for evaluating the species specificity of the two STR loci.