[Serological and genetic study of a pedigree featuring a rare p phenotype].
[Serological and genetic study of a pedigree featuring a rare p phenotype].
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DOI：
10.3760/cma.j.issn.1003-9406.2012.06.017
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发表时间：
2012-12
期刊：
影响因子：
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通讯作者：
Ling Wei;Yanli Ji;Hong Luo;C. Mo;Run-qing Zhang;Yang Zhao;Zhen Wang;G. Luo
中科院分区：
文献类型：
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作者：
Ling Wei;Yanli Ji;Hong Luo;C. Mo;Run-qing Zhang;Yang Zhao;Zhen Wang;G. Luo
目的探讨广东省一个罕见p表型家系的遗传背景。方法通过常规血清学方法鉴定罕见的p表型。提取先证者及其家族成员的基因组DNA，通过PCR扩增α-(1,4)半乳糖基转移酶(A4GALT)基因的外显子3并通过直接测序进行分析。使用直接测序在正常人群中筛选了谱系中发现的突变。结果先证者及4名罕见p表型的家族成员均携带点突变c.100G>A（p.Val34Ile）与缺失插入突变c.418_428del11ins34（p.Gln139Trpfs*72），形成A4GALT基因复合突变。一名具有 P2 表型的家族成员携带相同的杂合突变。在100名健康捐献者中，5名携带杂合点突变c.100G>A，并且没有人携带缺失插入突变c.418_428del11ins34。结论该家系罕见的p表型是A4GALT基因复合突变所致，符合p表型的隐性遗传模式。
OBJECTIVE To explore genetic background of a pedigree with a rare p phenotype from Guangdong province. METHODS The rare p phenotype was identified by a conventional serologic method. With genomic DNA of proband and family members extracted, exon 3 of alpha-(1,4)galactosyltransferase (A4GALT) gene was amplified with PCR and analyzed by direct sequencing. The mutation found in the pedigree was screened in a normal population using direct sequencing. RESULTS The proband and 4 family members with the rare p phenotype have all carried a point mutation c.100G>A (p.Val34Ile) in combination with a deletion-insertional mutation c.418_428del11ins34(p.Gln139Trpfs*72), which renders a compound mutation of A4GALT gene. One family member with P2 phenotype has carried a same heterozygous mutation. Of the 100 healthy donors, 5 have carried a heterozygous point mutation c.100G>A, and none carried the deletion-insertional mutation c.418_428del11ins34. CONCLUSION The rare p phenotype of the pedigree has resulted from a compound mutation of the A4GALT gene, which is in keeping with a recessive inheritance pattern of the p phenotype.