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Low bone mineral density (BMD) is a characteristic feature of Beta
thalassemia major (βTM) patients. Vitamin D is important for bone
mineralization. Vitamin D receptors (VDR) genetic variants may be
related to vitamin D status and BMD.
Patients and Methods
|Figure 1. Representative agarose gel electrophoresis illustrating PCR products for the VDR genetic variants. (A) BsmI variant: lane1, bp marker; lane 2,5,6, heterozygous subject, b allele cut with BsmI generating 650 and 175 bp fragments, B allele does not cut and is 825 bp; lane 3,4,7,8 homozygous BB subject. (B) TaqI variant: lane 1, bp marker; lane 2,8, heterozygous Tt subject, t allele cut with TaqI generating 290,245 and 205 bp fragments; lane 4,6,, homozygous TT subject with 495 and 245 bp bands; lane 3,5,7, homozygous tt subject with 290, 245 and 205 bands. (C) FokI variant: lane1, bp marker; lane 2,5, heterozygous subject, f allele cut with FokI generating 196 and 69 bp fragments, F allele does not cut and appears as 265 bp band; lane 3,4,7,8 homozygous FF subject; lane 6, homozygous ff subject with 196 anf 69 bp bands.|
|Table 1. Characteristics of study subjects.|
|Table 2, Associations between clinical presentation with age and BMD in βTM patients.|
|Table 3, Association between the genotypes of BsmI, TaqI and FokI with different parameters in patients with βTM.|
|Figure 2, BMD Z scores in different VDR genotypes of (A) BsmI (B) TaqI (C) FokI genetic variants.|
|Table 4, Association between alleles of BsmI, TaqI and FokI with different parameters in patients with βTM.|
|Table 5, Univariate and multivariate analysis for the parameters predicating osteoporosis in total cases.|