[Clinical and molecular genetic analysis of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome].

Objective: To explore the genetic characteristics of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome (RTT).

Methods: A male infant who was admitted to Gansu Provincial Maternity and Child Health Care Hospital in May 2020 was selected as the study subject.

[Clinical features and genetic analysis of a child with 3-methylglutenedioic aciduria type VII due to novel variants of CLPB gene].

Objective: To explore the clinical features and genetic basis for a child with 3-methylglutaconic aciduria type VII.

Methods: A child who was diagnosed at the Gansu Provincial Maternity and Child Health Care Hospital on August 9, 2019 was selected as the study subject. Clinical data of the child, including urine gas chromatography and mass spectrometry, were collected.

Evaluation of the clinical effects of non-invasive prenatal screening for diseases associated with aneuploidy and copy number variation.

Background: To explore and compare the clinical effects of high-resolution non-invasive prenatal screening (NIPS-Plus) for common/uncommon chromosomal aneuploidy and microdeletion/microduplication syndromes (MMS).

Methods: The current prospective study included a total of 25,380 pregnant women who performed NIPS-Plus, and amniocentesis was performed on women with MMS with the screening results to diagnose patients with suspected MMS.

Results: There were 415 samples with positive results for NIPS-Plus, included 275 with aneuploidy and 140 with MMS.

[Phylogenetic and genetic heterogeneity of 23 Acidithiobacillus strains isolated from different geographical locations].

Objective: To study the phylogenetic and genetic heterogeneity of 23 Acidithiobacillus strains from various geographical locations, as well as the relationship between the DNA fingerprinting classification and geographical origin of Acidithiobacillus.

Methods: Partial 16S-23S rRNA gene intergenic spacer (ITS) was used to construct corresponding phylogenetic trees based on the sequence homology. rus gene amplification and rep-PCR assay with two different primers (BOXAIR and ERIC) were performed to analyze genetic heterogeneity of Acidithiobacillus strains from diverse environment.

[Phylogenetic and diversity analysis of Acidithiobacillus spp. based on 16S rRNA and RubisCO genes homologues].

Objective: The purpose of the study was to reveal geographic region-related Acidithiobacillus spp. distribution and allopatric speciation. Phylogenetic and diversity analysis was done to expand our knowledge on microbial phylogeography, diversity-maintaining mechanisms and molecular biogeography.