Rapid detection of deletional α-thalassemia by an oligonucleotide microarray

Li, Zesong; Guo, Ruru; Zhang, Wen

doi:10.1002/ajh.20369

Cited by 12 publications

(5 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In the southern China population, ‐ ‐ SEA , ‐α 3.7 , and ‐α 4.2 are the most common α‐thalassemia mutations . Other α‐thalassemia deletional mutations such as ‐ ‐ 11.1 and ‐α 27.6 and the α‐globin gene triplication (ααα anti3.7 and ααα anti4.2 ) have also been detected .…”

Section: Introductionmentioning

confidence: 99%

“…In the southern China population, --SEA , -α 3.7 , and -α 4.2 are the most common α-thalassemia mutations (2,3,6). Other α-thalassemia deletional mutations such as -- 11.1 (7) and -α 27.…”

mentioning

confidence: 99%

“…Other α-thalassemia deletional mutations such as -- 11.1 (7) and -α 27. 6 (8) and the α-globin gene triplication (ααα anti3.7 and ααα anti4. 2 ) have also been detected (8,9).…”

mentioning

confidence: 99%

See 2 more Smart Citations

Molecular characterization and clinical presentation of HKαα and anti‐HKαα alleles in southern Chinese subjects

Shang

Cai

et al. 2012

Clinical Genetics

View full text Add to dashboard Cite

The HKαα allele is a rearrangement occurring in the α-globin gene cluster containing both the -α(3.7) and ααα(anti4.2) unequal crossover junctions. The anti-HKαα allele is the reciprocal product containing both the -α(4.2) and ααα(anti3.7) unequal crossover junctions, which had been predicted but had not been detected previously. The phenotypic feature and population frequency of these two unusual alleles were not described. We report the identification of nine individuals carrying the HKαα allele and two individuals carrying the anti-HKαα allele in southern China and describe their phenotype and haplotype data. The molecular structures of HKαα allele and anti-HKαα allele were confirmed by two-round nested polymerase chain reaction assay. The mechanism of origin of both alleles is related to probably simultaneous double crossover. Heterozygotes of HKαα or anti-HKαα allele show a normal hematological phenotype. Finally, we report the carrier rates of these both alleles in the Guangxi Zhuang Autonomous Region of southern China, namely, ∼0.07% for the HKαα allele and ∼0.02% for the anti-HKαα allele.

show abstract

Section: Introductionmentioning

confidence: 99%

mentioning

confidence: 99%

See 1 more Smart Citation

Molecular characterization and clinical presentation of HKαα and anti‐HKαα alleles in southern Chinese subjects

Shang

Cai

et al. 2012

Clinical Genetics

View full text Add to dashboard Cite

show abstract

“…A comparison of our CMA, which was a high resolution SNP array, and traditional single-tube multiplex PCR results indicated that CMA could accurately detect HBA gene deletion. In previous studies, oligonucleotide microarrays with custom design probes were successfully used to detect both α-thalassemia and β-thalassemia 70 – 72 . Thus, we suggest that a tentative diagnosis of α-thalassemia should be considered in patients who underwent CMA testing because this is important for genetic counseling and prevention of α-thalassemia, particularly in populations where the disease is endemic.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder

Hnoonual

Thammachote

Tim‐Aroon

et al. 2017

Sci Rep

View full text Add to dashboard Cite

Chromosomal microarray (CMA) is now recognized as the first-tier genetic test for detection of copy number variations (CNVs) in patients with autism spectrum disorder (ASD). The aims of this study were to identify known and novel ASD associated-CNVs and to evaluate the diagnostic yield of CMA in Thai patients with ASD. The Infinium CytoSNP-850K BeadChip was used to detect CNVs in 114 Thai patients comprised of 68 retrospective ASD patients (group 1) with the use of CMA as a second line test and 46 prospective ASD and developmental delay patients (group 2) with the use of CMA as the first-tier test. We identified 7 (6.1%) pathogenic CNVs and 22 (19.3%) variants of uncertain clinical significance (VOUS). A total of 29 patients with pathogenic CNVs and VOUS were found in 22% (15/68) and 30.4% (14/46) of the patients in groups 1 and 2, respectively. The difference in detected CNV frequencies between the 2 groups was not statistically significant (Chi square = 1.02, df = 1, P = 0.31). In addition, we propose one novel ASD candidate gene, SERINC2, which warrants further investigation. Our findings provide supportive evidence that CMA studies using population-specific reference databases in underrepresented populations are useful for identification of novel candidate genes.

show abstract

“…The unknown DNA's are cut into pieces by restriction endonucleases and these DNA pieces are label with fluorescent markers. These are then allowed to react with tests of the DNA chip [59][60][61].…”

Section: Gel Image Shows the Multiplex Arms Pcr For Five Common Mutations: [A] Ivs 1-5 Mutation/normal; [B] Ivs 1-5 Mutation/normal; [C] mentioning

confidence: 99%

An Early Diagnosis of Thalassemia: A Boon to a Healthy Society

Nigam¹,

Singh²,

Bhatnagar³

et al. 2022

Blood - Updates on Hemodynamics and Thalassemia

View full text Add to dashboard Cite

The β-thalassemia is a hereditary blood disorders, characterized by reduced or absent synthesis of the hemoglobin beta chain that cause microcytic hypochromic anemia. An early diagnosis, economical test, awareness programs and prenatal screening will be a milestone for the eradication of this genetic disorder and to reduce burden of the health sector of a country subsequently the economics. Initially, the diagnosis of β-thalassemia depends on the hematological tests with red cell indices that disclosed the microcytic hypochromic anemia.Hemoglobin analysis shows the abnormal peripheral blood smear with nucleated red blood cells, and reduced amounts of hemoglobin A (HbA). In severe anemia, the hemoglobin analysis by HPLC reveals decreased quantities of HbA and increased the level of hemoglobin F (HbF).The decrease level of MCV and MCH are also associated with β-thalassemia. There are various different molecular techniques such as ARMS PCR, allele-specific PCR, Gap PCR, denaturing gradient gel electrophoresis, reverse dot blotting, DGGE, SSCP, HRM, MLPA, sequencing technology and microarray available to identify the globin chain gene mutations. These molecular techniques can be clustered for detection by mutation types and alteration in gene sequences.

show abstract

Rapid detection of deletional α-thalassemia by an oligonucleotide microarray

Cited by 12 publications

References 6 publications

Molecular characterization and clinical presentation of HKαα and anti‐HKαα alleles in southern Chinese subjects

Molecular characterization and clinical presentation of HKαα and anti‐HKαα alleles in southern Chinese subjects

Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder

An Early Diagnosis of Thalassemia: A Boon to a Healthy Society

Contact Info

Product

Resources

About