Molecular Epidemiologic analysis of familial case including an discordant identical twin of HTLV-I associated myelopathy (HAM)

我们有一例HTLV-I相关脊髓病（HAM）的结果不一致的同卵双胞胎（健康携带者和HAM患者）。我们对包括这对双胞胎在内的该家族的健康携带者和HAM患者进行了tax基因的核苷酸序列分析、淋巴细胞HTLV-I前病毒载量、血清抗HTLV-I抗体滴度、外周血细胞自发增殖和HLA分型。1)随机选取20个不同的分子克隆，对巢式PCR扩增出的税务基因进行测序。18名患者中有8名在LIAM患者的克隆中发现了突变。载体克隆均出现突变。2) 5个突变具有非同义突变。在载体中发现的一种变化可能解释HLA锚定基序免疫应答的差异。3) HAM患者htlv - 1前病毒载量显著高于携带者。4) HAM患者的自发增殖被夸大。5) ENV的核苷酸序列也发生突变，导致双胞胎HLA锚定基序iii载体的改变。

We have a case of identical twin of discordant outcome (a healthy carrier and HAM patient) of HTLV-I associated myelopathy (HAM). We investigated healthy carriers and HAM patients in this family including this twin by nucleotide sequence analysis of tax gene, viral load of HTLV-I provirus of lymphocytes, titers of serum anti-HTLV-I antibody, spontaneous proliferation of peripheral blood cells, and HLA typing.1) twenty different molecular clones were selected randomly, then tax gene amplified by nested PCR was sequenced. Eight out of 18 showed mutations were found in clones derived from LIAM patient. All clones from carrier showed mutation.2) Five mutations had non-synonymous mutations. One of change found in carrier may explain difference of immunological response to the HLA anchor motif.3) HTLV-l proviral load was significant higher in HAM patients than on carrier.4) Spontaneous proliferation was exaggerated in HAM patients.5) Nucleotide sequence of ENV also showed mutation responsible for change of HLA anchor motif iii carrier of twin.