Study of intron 22 inversion mutation in north India with review

Kumar, Praveen; Faridi, Nuzhat Jahan; Husain, Nuzhat; Soni, Priyanka; Goel, Sudhir K.

doi:10.1097/mbc.0b013e3283574f40

Cited by 5 publications

(3 citation statements)

References 29 publications

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“…Hence, a direct method should be performed first to detect inversion mutations for patients with severe HA. Long distance PCR was once advocated to detect inv22; however, its limitations, including difficulties in amplification, a stringent requirement for template quality and poor repeatability, make it less reliable (15). In recent years, investigators began to use inversion PCR (I-PCR), which consists of enzyme digestion, T4 ligase connection and PCR amplification.…”

Section: Discussionmentioning

confidence: 99%

“…In recent years, investigators began to use inversion PCR (I-PCR), which consists of enzyme digestion, T4 ligase connection and PCR amplification. The advantages of I-PCR include lower quality requirement for templates, shorter DNA fragments to be amplified, good repeatability, an easy protocol and simple interpretation of the results (15). This research adopted the IS-PCR method (7), which was the result of optimization and improvements made to the I-PCR protocol.…”

Section: Discussionmentioning

confidence: 99%

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Direct and indirect gene diagnosis of hemophilia A pedigrees in the Chinese population

Cao

Shen

Huang

et al. 2017

Molecular Medicine Reports

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Hemophilia A (HA) is an X‑linked recessive hereditary disorder caused by defects in the coagulation factor VIII (FVIII) gene. In order to diagnose patients with presymptomatic HA and carriers, the present study conducted direct gene diagnosis for the common abnormalities in FVIII and subsequently performed indirect gene diagnosis for the other abnormalities in FVIII for Chinese HA pedigrees. Direct gene diagnosis was performed in 10 HA pedigrees using inverse shifting‑polymerase chain reaction to detect intron 22 inversion (inv22), intron 22 deletion, intron 22 duplication and inv1 of FVIII. Pedigrees with no detected mutations were further analyzed using indirect genetic diagnosis (haplotype linkage analysis), where the genetic markers of FVIII included one variable number of tandem repeat, seven short tandem repeats and three restriction fragment length polymorphisms. The results of three pedigrees were taken as examples. Pedigree 1 underwent direct gene diagnosis, which demonstrated that the proband was inv22 distal pattern hemophiliac and the mother was an inv22 distal pattern carrier. The other two pedigrees were subjected to indirect gene diagnosis. In pedigree 2, the detection of DXS52, 13(CA) n, DXS9901(GT) n, intron (int)18, int19 and int22 confirmed the proband's baby brother was normal, the proband's maternal aunt was a carrier and her baby son was normal. Detection of DXS9901(GT)n, int18, int19 and int22 in pedigree 3 demonstrated that the proband's maternal grandmother was not a carrier. As the maternal grandfather was not affected by the disease, it was deduced that a mutation of FVIII occurred in the proband's mother. The combination of direct and indirect gene diagnoses provides reliable evidence for the use of genetic counseling in HA pedigrees, particularly for screening presymptomatic males and female carriers with normal offspring.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Direct and indirect gene diagnosis of hemophilia A pedigrees in the Chinese population

Cao

Shen

Huang

et al. 2017

Molecular Medicine Reports

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“…сопоставимы с данными из публикаций о генетических нарушениях у пациентов с тяжелой формой гемофилии А [20][21][22][23][24][25].…”

Section: электрофореграмма результатов детекции Ivs1unclassified

Molecular genetic diagnosis in the group of hemophilia A patients in Belarus: 12 new allelic variants in the <i>F8</i> gene

Liubushkin,

Guryanova,

Dmitriev

et al. 2023

Voprosy gematologii/onkologii i immunopatologii v pediatrii

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Hemophilia A is the most common severe bleeding disorder caused by various genetic changes in the F8 gene, leading to coagulation factor VIII deficiency. Hemophilia A is characterized by high heterogeneity of genetic defects. The severity of hemophilia A varies depending on the type of genetic defects in the F8 gene. More than 3000 unique variants of the F8 gene are associated with the hemophilia A. Approximately 30% of genetic defects occur de novo. The aim of this study is to determine the spectrum of genetic defects in the F8 gene in children with hemophilia A in Belarus. The study was approved by the Independent Ethics Committee and the Scientific Council of the Belarusian Research Center for Pediatric Oncology, Hematology and Immunology (the Republic of Belarus). The study included 98 patients with hemophilia A, who had been treated or followed up at the Belarusian Research Center for Pediatric Oncology, Hematology and Immunology (the Republic of Belarus). Patients were categorized into 3 groups based on the severity of their disease: severe (n = 82), moderate (n = 3), and mild (n = 13). Twenty (20.4%) patients had a history of inhibitors to factor VIII. For our study, we used venous blood samples. Genomic DNA was isolated from leukocyte suspension (obtained from the whole blood samples) using phenol-chloroform extraction. All severe hemophilia A patients were prescreened for intron 22 and 1 inversions in the F8 gene using inverse and multiplex polymerase chain reaction assays, respectively. Sequencing of F8 coding regions was carried out by next generation sequencing. All clinically relevant variants were confirmed by Sanger sequencing. Genetic testing revealed that 99% of the patients with hemophilia A (n = 97) had pathogenic variants in the F8 gene. Intron 22 and intron 1 inversion mutations within the F8 gene were detected in 45.1% (n = 37) and 1.2% (n = 1) patients with severe hemophilia A, respectively. Two patients had an abnormal pattern of intron 1 inversion, not previously described in the literature. A total of 48 different variants in the F8 gene were detected in 57 patients using next generation sequencing. Eleven of the 48 genetic variants identified have not been previously reported.

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Separation of intron 22 inversion type 1 and 2 of hemophilia A by modified inverse-shifting polymerase chain reaction and capillary gel electrophoresis

Pan

Chiou

Wang

et al. 2014

Talanta

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Study of intron 22 inversion mutation in north India with review

Cited by 5 publications

References 29 publications

Direct and indirect gene diagnosis of hemophilia A pedigrees in the Chinese population

Direct and indirect gene diagnosis of hemophilia A pedigrees in the Chinese population

Molecular genetic diagnosis in the group of hemophilia A patients in Belarus: 12 new allelic variants in the <i>F8</i> gene

Separation of intron 22 inversion type 1 and 2 of hemophilia A by modified inverse-shifting polymerase chain reaction and capillary gel electrophoresis

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