proband

• n.

• 発端者

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/10/13 18:42:28」(JST)

wiki en

[Wiki en表示]

"Proband", "proposito" (male proband), or "proposita" (female proband) is a term used most often in medical genetics and other medical fields to denote a particular subject (person or animal) being studied or reported on. On pedigrees, the proband is noted with a square (male) or circle (female) shaded accordingly. It is important to denote the proband, so that the relationship to other individuals can be seen and patterns established.

In most cases, the proband is the first affected family member who seeks medical attention for a genetic disorder. Among the ancestors of the proband, there may be other subjects with the manifest disease, but the proband typically refers to the member seeking medical attention or being studied, even if affected ancestors are known. Often affected ancestors are unknown due to the lack of information regarding those individuals or about the disease at the time they lived. Other ancestors might be undiagnosed due to the incomplete penetrance or variable expressivity.

The diagnosis of a proband raises the index of suspicion for the proband's relatives and some of them may be diagnosed with the same disease. Conventionally, when drawing a pedigree chart, instead of the first diagnosed person, the proband may be chosen from among the affected ancestors (parents, grandparents) from the first generation where the disease is found.

The term proband is also used in genealogy, where it denotes the root node of an ahnentafel, also referred to as the progenitor.

References

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 遺伝性ヘモクロマトーシスのスクリーニング screening for hereditary hemochromatosis
• 2. 肥大型心筋症の遺伝学 genetics of hypertrophic cardiomyopathy
• 3. 多発性内分泌腫瘍1型：定義および遺伝学 multiple endocrine neoplasia type 1 definition and genetics
• 4. 筋強直性ジストロフィー：予後およびマネージメント myotonic dystrophy prognosis and management
• 5. 網膜芽細胞腫の概要 overview of retinoblastoma

English Journal

• Statewide Retrospective Review of Familial Pancreatic Cancer in Delaware, and Frequency of Genetic Mutations in Pancreatic Cancer Kindreds.

• Catts ZA1, Baig MK2, Milewski B1, Keywan C1,3, Guarino M1,2, Petrelli N4,5,6,7.
• Annals of surgical oncology.Ann Surg Oncol.2016 May;23(5):1729-35. doi: 10.1245/s10434-015-5026-x. Epub 2016 Jan 4.
• BACKGROUND: Considering the typical rapid progression and high mortality of pancreatic cancer (PC), early detection may lead to an improved outcome. To date, there is no safe, sensitive, and cost-effective screening strategy to detect PC. Currently, screening is focused on individuals at the highest
• PMID 26727920

• Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study.

• Obermannova B1, Sumnik Z2, Dusatkova P2, Cinek O2, Grant M2, Lebl J2, Hendy GN3.
• European journal of endocrinology / European Federation of Endocrine Societies.Eur J Endocrinol.2016 Apr;174(4):K1-K11. doi: 10.1530/EJE-15-1216. Epub 2016 Jan 13.
• OBJECTIVE: Autosomal dominant hypocalcemia (ADH) is a rare disorder caused by activating mutations of the calcium-sensing receptor (CASR). The treatment of ADH patients with 1α-hydroxylated vitamin D derivatives can cause hypercalciuria leading to nephrocalcinosis.DESIGN AND METHODS: We studied a g
• PMID 26764418

• The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety.

• Sermijn E1, Delesie L2, Deschepper E3, Pauwels I4, Bonduelle M4,5, Teugels E4, De Grève J4.
• Familial cancer.Fam Cancer.2016 Apr;15(2):155-62. doi: 10.1007/s10689-015-9854-4.
• BACKGROUND: Predictive genetic testing has high impact on cancer prevention for BRCA carriers and passing this information in BRCA families is important. Mostly, this is proband-mediated but this path is defective and denies relatives lifesaving information.OBJECTIVE: To assess the efficacy/safety o
• PMID 26748927

Japanese Journal

• Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy　– Three Decades of Progress –

• Circulation Journal advpub(0), 2015
• … We have also learned much about the importance of proband status and the 24-h PVC count to assess sudden death risk, and the importance of exercise both in the development of ARVD/C in susceptible individuals and in defining the course of the disease. …
• NAID 130005065378

• A family of RTHβ with p.R316C mutation presenting occasional syndrome of inappropriate secretion of TSH

• , , , , , , , ,
• Endocrine Journal 62(3), 251-260, 2015
• … The proband was a 16 year-old girl with a goiter, detected at a school physical examination. …
• NAID 130005060859

• 尿中クレアチン／クレアチニン比と家族歴より診断に至ったクレアチントランスポーター欠損症の1家系 : 本邦3家系目

• 野崎 章仁,熊田 知浩,柴田 実,藤井 達哉,和田 敬仁,小坂 仁
• 脳と発達 47(1), 49-52, 2015
•  クレアチントランスポーター欠損症は, 筋緊張低下, 知的障害とけいれんを特徴とするX連鎖劣性遺伝性疾患である. 本邦3家系目を経験したので報告する. 発端者は8歳男児. 重度知的障害とけいれんを認めた. 2名の兄にてんかんと重度知的障害を認め, 長兄は17歳で突然死した. 尿中クレアチン／クレアチニン比上昇, 頭部MRスペクトロスコピーでクレアチンピーク低下, SLC6A8遺伝子解析でc.166 …
• NAID 130005005743

Related Links

• ProBand.com : ProBand® BandIT : Forearm Relief : Knee ...

ProBand is dedicated to the manufacture and distribution of innovative products which are designed to assist in the relief of pain and prevent Repetitive Stress Injuries (RSIs).

• probandの意味 - 英和辞書 - goo辞書

probandとは。意味や和訳。[名]遺伝（遺伝形質の家系調査で）系図の出発点になる人，発端者. - goo辞書は国語、英和、和英、中国語、百科事典等からまとめて探せる辞書検索サービスです。

Related Pictures