Results: 2

1.
Fig. 1

Fig. 1. From: Cytogenetic Analysis of Obsessive-Compulsive Disorder (OCD): Identification of a FRAXE Fragile Site.

The fragile X chromosome in male patient OCD-K33 with obsessive-compulsive disorder (OCD) is caused by expansion of the CCG repeat at FRAXE. Amplification of the CCG repeat at FRAXA (A) and FRAXE (B), and the (GCCGTC)n(GCC)n compound array at FRAXF (C) were carried out with polymerase chain reaction (PCR) using primers that span the corresponding repeat. The controls include no DNA, and DNA samples from three normal individuals (HG DNA1, HG DNA2, and HG DNA3). The size of the FRAXA and FRAXF repeats is comparable between OCD-K33 and the three normal controls, excluding FRAXA and FRAXF as the molecular basis of the OCD-K33 fragile X chromosome. Failure of amplification of the FRAXE repeat in OCD-K33 suggests that expansion of the FRAXE CCG repeat may be the cause of the OCD-K33 fragile site. PCR primers for FRAXA are 5′-gctcagctccgtttcggtttcacttccggt-3′ (forward) and 5′-agccccgcacttccaccaccagctcctcca-3′ (reverse); FRAXE, 5′-gcgaggaagcggcggcagtggcactgggcg-3′ (forward) and 5′-ctgtgagtgtgtaagtgt-gtgatgctg-3′ (reverse); FRAXF, 5′-cagggggcggtggctcaggtt-3′ (forward) and 5′-cctgcgccttacagcgggttca-3′ (reverse).

Qing Wang, et al. Am J Med Genet A. ;118(1):25-28.
2.
Fig. 2

Fig. 2. From: Cytogenetic Analysis of Obsessive-Compulsive Disorder (OCD): Identification of a FRAXE Fragile Site.

Southern blot analysis of patient OCD-K33 with OCD and his family members for expansion of FRAXE CCG repeat. Lane 1: λHind III molecular weight marker; lane 2, proband patient OCD-K33 with OCD (individual II-1); lane 3, proband’s mother (individual I-1) with normal phenotype; lane 4, proband’s maternal uncle (individual I-2) with normal phenotype; lane 5, proband’s maternal uncle (individual I-3) with speech impairment; lane 6, a normal control. The human genomic DNA was digested with EcoR I, transferred to a nylon membrane, and probed with a 32P-labeled 570-bp EcoR I-Sac II DNA fragment that contains exon 1 of FMR2 just distal to FRAXE CCG repeats. The size and corresponding CCG repeat number are indicated at the right.

Qing Wang, et al. Am J Med Genet A. ;118(1):25-28.

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