High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases.

Background: Genetic disorders often manifest as abnormal fetal or childhood development. Copy number variations (CNVs) represent a significant genetic mechanism underlying such disorders. Despite their importance, the effectiveness of clinical exome sequencing (CES) in detecting CNVs, particularly small ones, remains incompletely understood.

Abnormal hemoglobin anti-Lepore Hong Kong compound with β-thalassemia ameliorate thalassemia severity when co-inherited with α-thalassemia.

Abnormal hemoglobin anti-Lepore Hong Kong is a rare βδ fusion variants resulting from non-homologous crossover during meiosis. Anti-Lepore Hong Kong is known to consistently exhibit significantly increased level of HbA2. In this study, we used multiplex ligation-dependent probe amplification (MLPA) and single molecular real-time (SMRT) sequencing, as well as Sanger sequencing, to identify variants in five unrelated families with abnormal elevated HbA2 level.

Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families.

Background: β-Thalassemia is mainly caused by point mutations in the β-globin gene cluster. With the rapid development of sequencing technic, more and more variants are being discovered.

Results: In this study, we found two novel deletion mutations in two unrelated families, HBB: c.

Identification of four novel large deletions and complex variants in the α-globin locus in Chinese population.

Background: At present, the methods generally used to detect α-thalassemia mutations are confined to detecting common mutations, which may lead to misdiagnosis or missed diagnosis. The single-molecule real-time (SMRT) sequencing enables long-read single-molecule sequencing with high detection accuracy, and long-length DNA chain reads in high-fidelity read mode. This study aimed to identify novel large deletions and complex variants in the α-globin locus in Chinese population.

Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family.

Background: Hb Chapel Hill [Alpha2 74(EF3) Asp > Gly] results from an GAC > GGC substitution at codon 74 of the HBA1 or HBA2 genes. Hb Chapel Hill has not been reported since 1986.

Methods: A heterozygous mutation, HBA2: c.

Hb Q-Thailand heterozygosity unlinked with the (-α/) α-thalassemia deletion allele identified by long-read SMRT sequencing: hematological and molecular analyses.

Objective: In the present study, two unrelated cases of Hb Q-Thailand heterozygosity unlinked with the (-α/) α-thalassemia deletion allele were identified by long-read single molecule real-time (SMRT) sequencing in southern China. The aim of this study was to report the hematological and molecular features as well as diagnostic aspects of the rare manifestation.

Methods: Hematological parameters and hemoglobin analysis results were recorded.

A Novel 5 kb Deletion in the -Globin Gene Cluster Identified in a Chinese Patient.

β-Thalassemia (β-thal), a highly prevalent disease in tropical and subtropical regions of Southern China, is caused mainly by point mutations in the β-globin gene cluster. However, large deletions have also been found to contribute to some types of β-thal. We identified a novel 5 kb deletion in the β-globin cluster in a Chinese patient using multiplex ligation-dependent probe amplification (MLPA), and characterized it with single molecule real-time (SMRT) sequencing, gap-polymerase chain reaction (gap-PCR) and Sanger sequencing.

First study to describe a novel : c.400A > C mutation and Hb Dongguan heterozygote in two unrelated Chinese families.

Objectives: Here we report two rare α-globin chain variants in two unrelated families: Hb Val de Marne [α133(H16) Ser > Arg (AGC > CGC); : c.400A > C] and Hb Dongguan [α52(E6) Ser > Cys (TCT > TGT); : c.158C > G].

The -α subtype of α-thalassemia was identified in China.

Objective: The 3.7 kb deletion (-α) in the α-globin cluster, which characterizes α-thalassemia, has been reported to have a carrier rate of 4.78% in southern China.

The first Chinese case of unstable Hemoglobin Santa Ana detected by capillary electrophoresis: a case report and literature review.

Hemoglobin Santa Ana [β88(F4)Leu→Pro (CTG > CCG) : c.266T > C] is an unstable hemoglobin variant characterized by a substitution of the amino acid leucine by proline at the 88th position of the β-globin chain. We for the first time identified this hemoglobin variant in a Chinese patient by capillary electrophoresis (CE).

Accurate detection of α-globin gene copy number variants with two reactions using droplet digital PCR.

Background: The α-thalassemia is a highly prevalent disease in tropical and subtropical regions, including southern China, and is mainly caused by deletion in α-globin genes ( and ). The clinical manifestation of α-thalassemia is highly correlated with the copy number of α-globin genes. The decrease in copy number results in α-thalassemia, while duplication or triplication compounded with β-thalassemia may aggravate the clinical manifestation.

Compounded with hemoglobin Port Phillip and -α or -- deletions were identified in Chinese population.

Introduction: Although over 1000 hemoglobin (Hb) variants were identified so far, Hb Port Phillip compound with α-thalassemia deletion had no reported before.

Methods: Two patients and the associated families from Guangdong province in China were recruited. Hematological parameters were determined by blood routine examination and hemoglobin electrophoresis.

[Genetic Effect Analysis of β-globin Gene 3'UTR+101G>C (HBB:c. *233G>C) Variant].

Objective: To investigate whether β-globin gene 3'UTR+101G>C (HBB:c.*233G>C) variant has genetic effect and provide basis for gene diagnosis and genetic counseling.

Method: Whole blood cell analysis and capillary zone electrophoresis (CZE) were used to analyze the hematological indexes.

[Differential Diagnosis of Three Commonest Deletion β-Thalassemia in Chinese].

Objective: To analyze the hematological characteristics of Chinese γ(γδβ)-thalassemia，SEA-HPFH and Taiwan type β-thalassemia.

Methods: Hemoglobin electrophoresis and blood routine test were used to analyze the hematological indexes of all peripheral blood samples，PCR-Flow fluorescent hybridization and Gap-PCR were used to detect the globin gene mutations and the data were analyzed statistically.

Results: The 3 types of deletion β- Thalassemia patients were showed as hypochromic small cell anemia.

Severe fetal anemia and hydrops fetalis associated with compound heterozygosity for Hb Zurich-Albisrieden (:c.178G>C) and Hb Quong Sze (:c.377T>C).

We report on a fetus with cardiomegaly and increased middle cerebral artery-peak systolic velocity at 25 weeks of gestation. Severe fetal anemia (hemoglobin (Hb) level 37 g/L) was confirmed by cordocentesis. Hb analysis showed that Hb Bart's was 9% in cord blood.

[Hematological Analysis and Diagnosis of Two Rare Abnormal Hemoglobin].

Objective: To analyze the hematological characteristics of Hb Broomhill and Hb Hornchurch, and prenatal diagnosis should be carried out in two families.

Methods: RBC parameters and hemoglobin electrophoretogram were analyzed on the peripheral blood of all patients, and amniotic fluid was collected for prenatal diagnosis. PCR-Flow fluorescent hybridization and Sanger sequencing were performed for gene diagnosis of thalassemia.

Compound heterozygosity for hemoglobin variant Hb-Broomhill and the Southeast Asian α-thalassemia deletion does not worsen outcome: a case report of two unrelated patients.

We report two unrelated cases of compound heterozygosity for hemoglobin (Hb) variant Broomhill and the Southeast Asian (- - /) α-thalassemia deletion, whose clinical features and laboratory findings have never been reported. Hematological analyses revealed abnormal values for both cases as α-thalassemia traits, and capillary electrophoresis suggested an abnormal peak that was incompletely separated from the Hb A peak. A suspension array system and Sanger sequencing were used to characterize the genotypes.

[Gene Diagnosis and Phenotypic Analysis of β-Thalassemia Caused from a Rare Synonymous Mutation CD29 (C>T)].

Objective: To investigate the gene diagnosis and phenotypes analysis for a couple with β-thalassemia suspected from of blood routine test and hemoglobin electrophoresis, as well as the prenatal gene diagnosis of the fetus.

Methods: The gene mutation of β-globin in the samples of peripheral blood of pregnant woman and her husband, as well as amniotic fluid of pregnant woman were analyzied and identified by using PCR-RDB and Sanger sequencing.

Results: The detection showed that the heterozygote mutation of IVS-Ⅱ-654 (C>T), which is common mutation of β-globin gene, existed in pregnant woman, while her husband carried a rare mutation CD29 (c.

Genetic and phenotypic analysis of a rare asymptomatic case of a homozygous Chinese γ(γδβ)-thalassemia deletion in a Chinese family.

Objective: The clinical and hematologic features of thalassemia are due to different factors, and patients with identical genotypes may regularly exhibit variable severity. In the present work, one homozygous Chinese γ(γδβ)-thalassemia case with an asymptomatic phenotype, which is contrary to traditional views, was identified. Analysis of the underlying causes of this rare clinical phenotype involved accurate genetic diagnosis and detection of several genetic modifications.

[Genetic Analysis, Prenatal Diagnosis and Preimplantation Genetic Diagnosis of Taiwanese Deletion β-Thalassemia].

Objective: To perform genetic analysis, prenatal diagnosis and preimplantation genetic diagnosis (PGD) in a family with a rare deletional β- thalassemia.

Methods: Hematological parameters of the peripheral blood collected from all the family members were analyzed by whole blood cell analysis and capillary zone electrophoresis (CZE). Polymerase chain reaction-reverse dot blot (PCR-RDB) was used to identify 17 common β- thalassemia gene mutations, the multiplex ligation-dependent probe amplification (MLPA) and gap-polymerase chain reaction (gap-PCR) were used to identify β- globin gene cluster deletions.

Aptamer-based fluorescence-quenching lateral flow strip for rapid detection of mercury (II) ion in water samples.

Divalent mercury ion (Hg) is one of the most common and stable forms of mercury pollution. In this study, a skillfully designed lateral flow strip (LFS) was developed for sensitive detection of Hg in river water samples. Aptamer, a specific oligonucleotide probe, was used to selectively identify and target Hg instead of antibody in traditional immunechromatographic strips; and the fluorescence-quenching system was used to generate positive and low background florescence signals in the competitive-likely LFS.

A plasmonic ELISA for the naked-eye detection of chromium ions in water samples.

Here, we describe the development of a triangular silver nanoprism (AgNPR) etching-based plasmonic ELISA for the colorimetric determination of Cr(III) levels in environmental water samples. This involved the creation of a novel signal generation system (substrate reaction solution) for a competitive ELISA in which hydrogen peroxide (HO) is used to etch triangular AgNPRs, inducing a change in color. This is achieved by controlling the HO concentration that remains after degradation by catalase, which is conjugated to the secondary antibody of the ELISA.

Pt@AuNPs integrated quantitative capillary-based biosensors for point-of-care testing application.

Current diagnostic technologies primarily rely on bulky and costly analytical instruments. Therefore, cost-effective and portable diagnosis tools that can be used for point-of-care tests (POCT) are highly desirable. In this study, we report a cost-effective, portable capillary-based biosensor for quantitative detection of biomarkers by the naked eye.

A portable smart phone-based plasmonic nanosensor readout platform that measures transmitted light intensities of nanosubstrates using an ambient light sensor.

Plasmonic nanosensors may be used as tools for diagnostic testing in the field of medicine. However, quantification of plasmonic nanosensors often requires complex and bulky readout instruments. Here, we report the development of a portable smart phone-based plasmonic nanosensor readout platform (PNRP) for accurate quantification of plasmonic nanosensors.

Novel versatile smart phone based Microplate readers for on-site diagnoses.

Microplate readers are important diagnostic instruments, used intensively for various readout test kits (biochemical analysis kits and ELISA kits). However, due to their expensive and non-portability, commercial microplate readers are unavailable for home testing, community and rural hospitals, especially in developing countries. In this study, to provide a field-portable, cost-effective and versatile diagnostic tool, we reported a novel smart phone based microplate reader.