Figure 3 | Scientific Reports

Figure 3

From: Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A

Figure 3

Haplotype analysis showing the exon 4 rearrangement originated from a common founder. (A) All polymorphic markers on chromosome 5q. (B) The results of haplotype analysis using nine polymorphic markers in six patients with CS-A. All exon 4 rearrangement alleles in these patients shared the same mutation-bearing haplotype (A-G-M-0-T-G-C-A), while the same c.394_398delTTACA mutation alleles were shared on the other mutation-bearing haplotype (A-G-M1-T-T-A-T-A-1-8). Except the maternal allele of CS_03 and CS_20, all the other exon4 rearrangement alleles shared the 158 bp allele of D5S624. Note that M indicates the exon 4 rearrangement; N indicates the normal (wild type) exon 4 allele; M1 represents the c.394_398delTTACA mutation; and M2 represents the c.843 + 2 T > C mutation.

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