Comprehensive rapid identification of female carriers of DMD/BMD by ion-pair reversed-phase high performance liquid chromatography
Egyptian Journal of Medical Human Genetics [The]. 2005; 6 (1): 41-53
in English
| IMEMR
| ID: emr-70492
ABSTRACT
The unlabeled ion-pair reversed-phase high performance liquid chromatography [IP-RP-HPLC] was used in this study to develop a simple and rapid method for rapid identification of female carriers of the dystrophin gene. DNA molecular size markers were efficiently used to type the 2-bp short tandem repeat [STR]. In an Egyptian sample of 98 chromosomes, the most common alleles within the DMD gene were 200, 176, 245 and 243 bp due to STR44, 45, 49, and 50 markers, respectively. The true heterozygosity values of these markers ranged from 73.5 to 90.9% and observed allele numbers ranged from 8 to 17 in 98 chromosomes, revealing high polymorphism of the four [CA]n system of the DMD gene
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Carrier State
/
Polymerase Chain Reaction
/
Chromatography, High Pressure Liquid
/
Tandem Repeat Sequences
/
Gene Frequency
/
Genotype
Limits:
Female
/
Humans
/
Male
Language:
English
Journal:
Egypt. J. Med. Hum. Genet.
Year:
2005
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