Fig. 4.
![Fig. 4. A single A621 to T transversion is identified in the ALAS-E gene of the pyridoxine-refractory XLSA patient. Sequence analysis of DNA from peripheral lymphoid cells of proband, his mother, and sister showed a single A to T transversion at nt position 621 (compare [A] (normal control) with [B] (proband)). (C) shows sequence from his mother's ALAS-E genes. Note that the nt position 621 consists of compound wild type (A) and mutant nucleotides (T), indicating X chromosome-linked inheritance of this mutation.](https://ash.silverchair-cdn.com/ash/content_public/journal/blood/90/2/10.1182_blood.v90.2.822/4/bl_0035f4.jpeg?Expires=1735499097&Signature=PsOzQXNKJE2nkQaQ20h9L2ERGxNuhzFjRJLYA58LWbwZHd~34Bn580YAoyycNQE8TLFO6DS0ci5h0RaJEaX8DKLvW4dQXPP0YnRTdXiLtKATsUbpuOo5S-U2SvO9NrvRZfMF596vIitrqlFtHyrae~Ed3D0bE9N3n-4i3OaNT2nSalT5EzCtEbOnOe3TMLoXaLSuo2WW1~EGQ4Ue4QoRzJ1st4hQjxkY1CzTOUH9fZ6Lnv2Ce9royMcbC41fsSuubNKlgzL~pQnSS5RrNgptuO3XGOb03CYn-I5PmukNjtnDuTla2N9MLyF6Cppptt-Cms96prWkBPCxjLrMksPmpA__&Key-Pair-Id=APKAIE5G5CRDK6RD3PGA)
A single A621 to T transversion is identified in the ALAS-E gene of the pyridoxine-refractory XLSA patient. Sequence analysis of DNA from peripheral lymphoid cells of proband, his mother, and sister showed a single A to T transversion at nt position 621 (compare [A] (normal control) with [B] (proband)). (C) shows sequence from his mother's ALAS-E genes. Note that the nt position 621 consists of compound wild type (A) and mutant nucleotides (T), indicating X chromosome-linked inheritance of this mutation.
