scholarly journals Preimplantation genetic diagnosis for hemophilia A using indirect linkage analysis and direct genotyping approaches

2010 ◽  
Vol 8 (4) ◽  
pp. 783-789 ◽  
Author(s):  
A. D. LAURIE ◽  
A. M. HILL ◽  
J. R. HARRAWAY ◽  
A. P. FELLOWES ◽  
G. T. PHILLIPSON ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Preimplantation Genetic Diagnosis ◽  
Hemophilia A ◽  
Genetic Diagnosis ◽  
Indirect Linkage

scholarly journals Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis

2015 ◽  
Vol 116 (09) ◽  
pp. 542-546 ◽  
Author(s):  
I. Borgulova ◽  
M. Putzova ◽  
I. Soldatova ◽  
L. Krautova ◽  
L. Pecnova ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Indirect Linkage

scholarly journals Application of Indirect Linkage Analysis for Carrier Detection of Hemophilia A in Kurdistan Region of Iraq: Usefulness of Intron 18 BclI T>A, Intron 19 HindIII C>T, and IVS7 nt27 G>A Markers

2019 ◽  
Vol 25 ◽  
pp. 107602961985454
Author(s):  
Aveen M. Raouf Abdulqader ◽  
Shwan Rachid ◽  
Ali Ibrahim Mohammed ◽  
Sarwar Noori Mahmood
Keyword(s):  
Linkage Analysis ◽  
Hemophilia A ◽  
Fragment Length Polymorphism ◽  
Direct Sequencing ◽  
Practical Method ◽  
Kurdistan Region ◽  
Factor Viii Gene ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Indirect Linkage

Hemophilia A (HA) is the most common congenital X-linked coagulopathy caused by mutations in the factor VIII gene. One in 5000 to 10 000 male persons worldwide suffer from HA. It is the archetype of high-cost, low-volume disease. Therefore, identification of carriers is crucial to avoid the birth of affected males. Tracking of the defective X chromosome through indirect linkage analysis represents the most practical method for screening for carriers in developing countries. In this study, 227 individuals from 41 families with HA and 100 normal participants were recruited from the Kurdistan region of Iraq and evaluated for intron 18 BclI, intron 19 HindIII, and IVS7 nt 27 markers by polymerase chain reaction restriction fragment length polymorphism and direct sequencing. Among the studied women, 49%, 42%, and 14% were discovered to be heterozygous for BclI, HindIII, and IVS7 markers, respectively. Using BclI, HindIII, and IVS7 markers, 56%, 46%, and 17% of the families were informative, respectively. The combined informativity of these polymorphic sites reaches 66%. The current study illustrates the effectiveness of the BclI and HindIII markers for the diagnosis of HA carriers among the Iraqi Kurdish population.

scholarly journals Polar Body Diagnosis for Hemophilia A Using Multiplex PCR for Linked Polymorphic Markers

2005 ◽  
Vol 53 (3) ◽  
pp. 277-280 ◽  
Author(s):  
Diana Tomi ◽  
Georg Griesinger ◽  
Askan Schultze-Mosgau ◽  
Juliane Eckhold ◽  
Beate Schöpper ◽  
...  
Keyword(s):  
Multiplex Pcr ◽  
Preimplantation Genetic Diagnosis ◽  
Hemophilia A ◽  
Polar Body ◽  
Genetic Diagnosis ◽  
Polymorphic Markers ◽  
Polar Bodies ◽  
Fluorescent Pcr ◽  
Polar Body Diagnosis

Preimplantation genetic diagnosis (PGD) is usually performed on blastomeres. In Germany, the only possibility to perform PGD is by analysis of polar bodies. We performed PGD using polar bodies in a woman who is a carrier of hemophilia A. Multiplex PCR followed by nested fluorescent PCR for five linked polymorphic markers was established. From 11 analyzed polar bodies, only 1 showed alleles linked to the mutation. The corresponding oocyte was transferred and no pregnancy was established. As seen in other investigations, the rate of heterozygous first polar bodies is surprisingly high.

scholarly journals Preimplantation genetic diagnosis of hemophilia A

2016 ◽  
Vol 14 (S1) ◽  
Author(s):  
Ming Chen ◽  
Shun-Ping Chang ◽  
Gwo-Chin Ma ◽  
Wen-Hsian Lin ◽  
Hsin-Fu Chen ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Hemophilia A ◽  
Genetic Diagnosis

scholarly journals Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Raquel M. Fernández ◽  
Ana Peciña ◽  
Beatriz Sánchez ◽  
Maria Dolores Lozano-Arana ◽  
Juan Carlos García-Lozano ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Hemophilia A ◽  
Methodological Approach ◽  
Genetic Diagnosis ◽  
Live Birth Rate ◽  
University Hospital ◽  
Methodological Approaches ◽  
The University ◽  
Clinical Overview ◽  
Selection Of

Hemophilia A and B are the most common hereditary hemorrhagic disorders, with an X-linked mode of inheritance. Reproductive options for the families affected with hemophilia, aiming at the prevention of the birth of children with severe coagulation disorders, include preimplantation genetic diagnosis (PGD). Here we present the results of our PGD Program applied to hemophilia, at the Department of Genetics, Reproduction and Fetal Medicine of the University Hospital Virgen del Rocío in Seville. A total of 34 couples have been included in our program since 2005 (30 for hemophilia A and 4 for hemophilia B). Overall, 60 cycles were performed, providing a total of 508 embryos. The overall percentage of transfers per cycle was 81.7% and the live birth rate per cycle ranged from 10.3 to 24.1% depending on the methodological approach applied. Although PGD for hemophilia can be focused on gender selection of female embryos, our results demonstrate that methodological approaches that allow the diagnosis of the hemophilia status of every embryo have notorious advantages. Our PGD Program resulted in the birth of 12 healthy babies for 10 out of the 34 couples (29.4%), constituting a relevant achievement for the Spanish Public Health System within the field of haematological disorders.

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