Revealing the regulation of allergic asthma airway epithelial cell inflammation by STEAP4 targeting MIF through machine learning algorithms and single-cell sequencing analysis.

Asthma comprises one of the most common chronic inflammatory conditions, yet still lacks effective diagnostic markers and treatment targets. To gain deeper insights, we comprehensively analyzed microarray datasets of airway epithelial samples from asthmatic patients and healthy subjects in the Gene Expression Omnibus database using three machine learning algorithms. Our investigation identified a pivotal gene, .

Cell-free DNA test for pathogenic copy number variations: A retrospective study.

Objective: To evaluate the detection rate (DR) by prenatal cell-free DNA test for pathogenic copy number variations (CNVs)＞2 Mb among pregnancies with fetal ultrasound abnormalities.

Materials And Methods: This was a retrospective study on 29 pregnant women with fetuses diagnosed as microdeletion/microduplication syndromes by prenatal chromosome microarray analysis (CMA). Cell-free DNA from the maternal plasma was sequenced on the NextSeq CN500 sequencer.

Prenatal features of 17q12 microdeletion and microduplication syndromes: A retrospective case series.

Objective: To present the experience on prenatal features of 17q12 microdeletion and microduplication syndromes.

Materials And Methods: Prenatal chromosomal microarray analysis (CMA) were conducted between January 2015 and December 2018 at a single Chinese tertiary medical centre. Information of cases identified with 17q12 microdeletion or microduplication syndromes were retrospectively collected.

The application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegaly.

Objective: To investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of genetic abnormalities in fetal isolated mild ventriculomegaly.

Materials And Methods: This retrospective study reviewed 101 fetuses with isolated mild ventriculomegaly who had undergone invasive prenatal diagnosis at our hospital. CMA was performed in all cases to detect chromosomal aneuploidy as well as copy number variations (CNVs) that are too small to be detected by conventional karyotyping.

[Mutation analysis and prenatal diagnosis of families affected with Duchenne and Becker muscular dystrophy].

Objective: To detect potential mutations for probands from families affected with Duchenne/Becker muscular dystrophy (DMD/BMD), and to carry out prenatal diagnosis through identification of female carriers.

Methods: A total of 43 DMD/BMD families were recruited. Multiplex PCR was used to analyze 18 exons within hotspots for DMD gene deletions.

[Molecular genetic study of MECP2 gene for a patient with typical Rett syndrome].

Objective: To provide genetic diagnosis and counseling for a 2-year-old girl with typical Rett syndrome through analyzing the methyl-CpG binding protein 2 (MECP2) gene.

Methods: Potential mutation of the MECP2 gene was screened by DNA sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis of members of the family as well as normal controls. Lymphocyte culture for karyotype analysis was carried out for the patient to exclude chromosomal abnormalities.

Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas.

Background: Multiple osteochondromas (MO), an inherited autosomal dominant disorder, is characterized by the presence of multiple exostoses on the long bones. MO is caused by mutations in the EXT1 or EXT2 genes which encode glycosyltransferases implicated in heparin sulfate biosynthesis.

Methods: In this study, efforts were made to identify the underlying disease-causing mutations in patients from two MO families in China.

[Mutation analysis and prenatal diagnosis of sporadic DMD/BMD families].

Objective: To analyze the pathogenic mutation of sporadic patients in Duchenne/ Becker muscular dystrophy (DMD/BMD) families and to perform prenatal diagnosis, identify the female carriers and evaluate the ratio of de novo mutation in these pedigrees.

Methods: A total of 30 sporadic DMD/BMD families were included. Traditional multiplex PCR was used to detect the 18 exons in the deletion hot area of DMD gene.

[Multiplex quantitative PCR detection for female carrier in an X-linked ichthyosis family].

Objective: To analyze the pathogenic mutation of an X-linked ichthyosis (XLI) family, and identify the genetic diagnosis of three probable female carriers in this family. To evaluate the availability of different detect methods for steroid sulfatase (STS) gene mutation.

Methods: Peripheral blood samples were collected from the family, including the proband, proband's mother, younger sister, and younger female cousin, and 10 males and 10 females as controls.

[Mutational analysis in a family with X-linked spondyloepiphyseal dysplasia tarda].

Objective: To detect the mutation of the SEDL gene in an X-linked spondyloepiphyseal dysplasia tarda (SEDL) family.

Methods: Two patients and three females of the X-SEDL family were detected using reverse transcriptase PCR (RT-PCR) and sequence analysis.

Results: A G209A mutation of SEDL gene was detected in the cDNA sequences of the patients, which was confirmed by sequence analysis of the exon 4 of the SEDL gene.

[Prenatal diagnosis of oculocutaneous albinism type II and discovery of two novel mutations].

Objective: To investigate the genotype of oculocutaneous albinism type II (OCA2) and perform prenatal gene diagnosis for OCA2.

Methods: Peripheral blood samples were collected from a 9-year-old girl with OCA and her parents, the mother being pregnant. PCR, automatic sequence analysis and denaturing high performance liquid chromatography (DHPLC) were used to analyze the TYR gene and P gene so as to screen the OCA genes.

[A novel P gene mutation in a Chinese family with oculocutaneous albinism].

Objective: To investigate gene mutations of a consanguineous family with two oculocutaneous albinism (OCA) patients.

Methods: Genomic DNA was prepared from peripheral leukocytes. All of the exons and flanking introns of P gene and TYR gene were PCR-direct-sequenced.

[A new form of Oculocutaneous albinism, OCA4].

Oculocutaneous albinism (OCA) is a complex genetic disease with great clinical heterogeneity. Four different types of OCA have been reported to date (OCA1, OCA2, OCA3, and OCA4). OCA4 was firstly reported in a Turkish OCA patient.

[Prenatal gene diagnosis of oculocutaneous albinism type I].

Objective: Mutation analysis and prenatal gene diagnosis for the mutated tyrosinase (TYR) gene in two families with oculocutaneous albinism type I (OCA1).

Methods: To define the fetus genotypes and gene mutation sites, the PCR and sequencing techniques were applied to amplify and analyze the regions of exon, exon-intron and promoter of TYR gene in probands and their parents of 2 families.

Results: The patient or proband of family 1 showed as a compound heterozygote with mutants R278X and 929insC.

[Mutations and polymorphisms of the P gene associated with oculocutaneous albinism type II].

Oculocutaneous albinism typeII(OCA2), the most common type of albinism, is an autosomal recessive disorder. It is caused by mutations in the P gene, which is located on chromosome 15q11.1-q12 and divided into 24 exons and 23 introns.