By Mary Kearns-Jonker
Popular researchers and clinicians describe intimately the entire most modern laboratory innovations at present used to outline the molecular genetic foundation for congenital malformations of the guts, cardiomyopathies, cardiac tumors, and arrythmias in human sufferers. particularly, the equipment can be utilized to spot in scientific samples these genetic mutations liable for such congenital abnormalities as Marfan syndrome, Williams-Beuren Syndrome, Alagille syndrome, Noonan syndrome, and Friedreich ataxia. The authors additionally speak about the restrictions of picking out sufferers with congenital center illness utilizing those concepts in the course of either pre- and postnatal classes.
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Extra info for Congenital Heart Disease: Molecular Diagnostics (Methods in Molecular Medicine)
Lippincott-Raven, Philadelphia, pp. 2319–2334. 86. , Shi, Z. , Veeck, L. , Hughes, M. , and Rosenwaks, Z. (1999). First unaffected pregnancy using preimplantation genetic diagnosis for sickle cell anemia. JAMA 281, 1701–1706. 87. , et al. (2003) Preimplantation diagnosis for sonic hedgehog mutation causing familial holoprosencephaly. N. Engl. J. Med. 348, 1449–1454. DiGeorge/Velocardiofacial Syndrome 43 3 Molecular and Genetic Aspects of DiGeorge/Velocardiofacial Syndrome Deborah A. Driscoll Summary Cytogenetic, molecular, and clinical genetic studies have contributed to our understanding of the etiology, pathogenesis, and natural history of DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS).
Circulation 97, 2043–2048. 11. Jones, K. , ed. (1997) Smith’s Recognizable Patterns of Human Malformation, 5th ed, W. B. Saunders, Philadelphia. 12. Holt, M. and Oram S. (1960) Familial heart disease with skeletal malformations. Br. Heart. J. 22, 236–242. 13. Basson, C. , Lin, R. , et al. (1999) Different TBX5 interactions in heart and limb defined by Holt–Oram syndrome mutations. Proc. Natl. Acad. Sci. USA 96, 2919–2924. 14. Basson, C. , Bachinsky, D. , Lin, R. , et al. (1997) Mutations in human TBX5 cause limb and cardiac malformation in Holt–Oram syndrome.
Infrequently, other chromosomal rearrangements are found in patients with DGS/VCFS, and, rarely, point mutations in the gene TBX1, a transcription factor, that maps to the deleted region. 2 deletion is fluorescence in situ hybridization using probes from the commonly deleted region. Alternatively, polymerase chain reaction can be performed to confirm failure to inherit a parental allele in the region or to determine copy number. Prenatal diagnosis is also available, particularly when a conotruncal cardiac defect is identified during a pregnancy or when a parent carries a deletion.
Congenital Heart Disease: Molecular Diagnostics (Methods in Molecular Medicine) by Mary Kearns-Jonker