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. 2013 Apr 15;5(5):751–761. doi: 10.1002/emmm.201302466

Figure 4.

Figure 4

Identification and screening of the 17 nt deletion in SMIM1 that is responsible for the Vel− phenotype.

A. Schematic representation of the SMIM1 gene showing its location in chromosome 1 (ISCN 550 band ideogram) and its organization in four exons (black represents coding regions, and grey represents untranslated regions).

B. Detail of Sanger sequencing of SMIM1 in a Vel+ subject (top) and a Vel− subject (bottom) showing the homozygous deletion of 17 nt in the SMIM1 coding sequence (c.64_80del17; pS22Qfs) that is responsible for the Vel− blood type. The StyI restriction site on which is based the RFLP analysis is underlined.

C. RFLP analysis of the 17 nt deletion in SMIM1 in six random Vel+ subjects (lanes 1–6) and in six random Vel− subjects (lanes 8–13).

D. HRM analysis of the 17 nt deletion in SMIM1 in three homozygous (red curves), two heterozygous (blue curves) and three wildtype (green curves) individuals, performed in duplicate by two different operators.