巴基斯坦旁遮普省Sahiwal地区多毛症家族遗传模式

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引用次数: 0

摘要

先天性毛少症是一种主要的遗传性毛发生长疾病,影响着全世界数百万人。本研究对Sahiwal地区受影响家庭的毛少症进行了研究。在Sahiwal区的农村和城市地区进行了广泛的调查。为了进一步调查和建立家系,调查结束后选择了5个家系进行进一步分析。得到了参与者的口头同意,向他们保证这些信息和数据是在他们完全愿意和和谐的情况下获得的,没有任何压力。在调查过程中,对每个家庭进行了彻底的询问,并构建了谱系。家谱分析用于确定每个家庭中毛少病的患病率和突变的起源。对低毛线虫感染个体的系谱分析发现,这种疾病是代代相传的。在每一代受感染的家庭中,有些人仍然未受影响,这表明这种疾病是遗传隐性疾病。在所选家庭中,这种遗传疾病的总体患病率为25.82%。在研究的家庭中,213个人中有55个人患有毛少症。在目前的研究中,这种疾病的患病率在所有报告的家庭中都有所不同。家庭中UOA患病率为17.24%,UOB患病率为20.00%,UOC患病率为41.94%,UOD患病率为23.40%,UOE患病率为40.740%。本研究认为,所选家族中毛少病至少持续三代,遗传模式为常染色体隐性遗传。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Mode of inheritance for hypotrichosis in families of Sahiwal Division, Punjab, Pakistan
Congenital hypotrichosis is a major genetic disorder of hair-growth that affects millions of people all around the world. In this study, hypotrichosis was studied in the affected families in the district of Sahiwal. A wide survey was conducted in both rural and urban areas of district Sahiwal. For additional investigation and pedigree construction, five families were selected after the survey was completed for further analyses. Verbal consent was taken from the participants to assure them that the information and data was taken with their complete willingness and harmony, without any pressure. During the survey, each family was thoroughly interrogated, and the pedigree was constructed. The pedigree analyses were used to determine the prevalence of hypotrichosis and origin of mutation in each family. A pedigree analyses of hypotrichosis-infected individuals found that the disease was handed down through generations. In each generation of infected families, some people remain unaffected showed that the disease was genetically recessive disorder. Overall prevalence of this genetic disorder was 25.82S% in the selected families. The hypotrichosis affected 55 individuals out of 213 individuals in studied families. In the current study, the prevalence of this disease varied across all reported families. The prevalence rate of the disease in UOA was 17.24%, in UOB was 20.00%, in UOC was 41.94%, in UOD was 23.40% and in UOE was 40.740% of the families. The present study concluded that hypotrichosis in the selected families were persistent for at least three generations and the mode of inheritance was autosomal recessive.
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