One family investigation and pathogeny research on ectrodactyly, absence of radius side part palm and split foot malformation / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>The paper is a study on the clinical symptoms and pathogeny of ectrodactyly and absence of radius side part palm and split foot malformation of some patients in one family.</p><p><b>METHODS</b>Based on the patient family investigation,a normal control group and a patient group were established. Then, polymerase chain reaction technique was used for DNA sequencing and analysis of the two groups for their exons 5-8 gene group DNA of P63 gene.</p><p><b>RESULTS</b>The medical examination found that the patients' upper bilateral limbs are short of thumbs, forefingers and middle fingers, and have radius side part palm and double lower limbs foot clefts malformation. The pathogeny research revealed that the PCR expansion pieces of the exons 5-8 of P63 are 284 bp, 259 bp, 245 bp and 259 bp respectively, and the size of the expansion piece of the patients was the same as that of the normal people group. However, a respective comparison between the DNA serial of the expansion piece of the patient and that of the normal people group and that of the P63 gene in the human gene bank showed that mutation occurs at the number 665 base pair of exon 5 of P63, namely a mutation from G to A.</p><p><b>CONCLUSION</b>The ectrodactyly, absence of radius side part palm and split foot malformation are caused by the mutation of base pair at number 665 of the exon 5 of P63.</p>