ISO/IEC 19794-14:2022 情報技術 — 生体認証データ交換フォーマット — Part 14:DNA データ | ページ 6

3.1.1

デオキシリボ核酸

DNA

体内の事実上すべての細胞に存在し、遺伝情報を世代から世代へと伝える複雑な分子

3.1.2

染色体

DNAの直鎖として遺伝物質を保持する細胞内の構造

注記 1: ヒトでは、各細胞には通常 23 対、合計 46 対の染色体が含まれています。これらの対のうち 22 対は常染色体と呼ばれ、男性と女性の両方で同じに見えます。 ^23番目のペアである性染色体は、男性と女性で異なります。男性の性染色体はサイズが異なり、X と Y と呼ばれます。女性の性染色体はサイズが同じで、両方とも X と呼ばれます。

3.1.3

Y染色体

男性特異的なDNAのみを含むDNA分子の組織化された構造

3.1.4

DNAの非コード部分

遺伝的に発現されていない染色体領域、つまり生物の機能的特性を提供することが知られていない染色体領域

3.1.5

軌跡

DNA分子上の固有の物理的位置

注記 1: locus の複数形は loci です。

3.1.6

対立遺伝子

特定の遺伝子座で見つかった DNA 配列の 2 つ以上の代替形態のメンバー

3.1.7

三対立遺伝子パターン

単一ソースのサンプルで 3 つの対立遺伝子が時折検出されることを示す遺伝子座

注記 1:三対立遺伝子パターンは、不均衡なピーク高さ ( Type I: 2 つのピークの高さの合計が 3 番目のピークに等しい) またはバランスのとれたピーク高さ ( Type II: 3 つの対立遺伝子のピークが同じである) を示すことがあります。同じくらいの高さ）。

3.1.8

キメラ

<遺伝的> 2 つの別々の個体を作るためのコードを持つ 2 つの異なる DNA セットを持つ個体

注記 1: 別の言い方をすれば、これは複数の異なる遺伝子型を持つ細胞の単一の個別の構成です。

3.1.9

ホモ接合性

それぞれの親から同じ対立遺伝子を受け継いだため、特定の遺伝子座に同じ（または区別できない）対立遺伝子を持つ個体

注記 1: ヘテロ接合体とは、特定の遺伝子座に 2 つの異なる対立遺伝子を持つ個体です。

3.1.10

ショートタンデムリピート

STR

直接連続して何度も繰り返される短い DNA 配列

注記 1:反復単位の数は個人間で大きく異なる可能性があり、この高いレベルのばらつきにより、STR は個人間の識別に特に役立ちます。

注記 2: STR 解析は、2 つ以上のサンプルの DNA 上の特定の遺伝子座を比較するための法医学遺伝学で最も有用な方法の 1 つです。

3.1.11

常染色体STR

aSTR

細胞の核内の常染色体にのみ存在するSTR領域

3.1.12

X-STR

X染色体上の女性特有のDNAにのみ存在するSTR領域

3.1.13

Y-STR

Y染色体上の男性特異的DNAにのみ存在するSTR領域

注記 1: Y-STR は男性に特異的であり、父親から息子にのみ受け継がれるため、父系譜を追跡するために使用できます。

3.1.14

ミトコンドリアDNA

mtDNA

細胞(ミトコンドリア)にエネルギーを供給するために使用される構造内に位置する小さな環状DNA分子

注記 1:ミトコンドリアは細胞の動力源と呼ばれることがよくあります。サイズが小さく、豊富な性質があるため、小さな生物材料や非常に損傷した生物材料を検査する場合に特に役立ちます。

注記 2:ミトコンドリア、したがってミトコンドリア DNA は、卵細胞を介してのみ母親から子孫に受け継がれます。母親からのみ受け継がれるため、母系を追跡するために使用できます。

3.2.1

DNA profiling

DNA typing

technique used by scientists to discriminate between individuals by examining variations in their DNA

3.2.2

allelic ladder

artificial mixture of the common alleles present in the human population for a particular STR marker that is used during a DNA profiling process (capillary electrophoresis) in parallel with the sample of interest for accurate allele call determination

3.2.3

electropherogram

graphic representation of results of a DNA profiling process (capillary electrophoresis) with the X axis displaying the observed alleles and the Y axis recording the relative amount of DNA detected based on the relative fluorescent unit collected during analysis

Note 1 to entry: Electropherograms can be transmitted as image files if this is needed from partner DNA laboratories for validation of DNA profiles.

3.2.4

DNA profile

set of alphanumeric values describing the molecular structure at a group of loci identified in an individual’s DNA

Note 1 to entry: A DNA profile is referred to as DNA fingerprint, DNA type or genetic fingerprint in other documents.

3.2.5

forensic DNA profile

DNA profile that represents a set of identification characteristics from non-coding parts of an analysed human DNA sample

3.2.6

mixed stain

biological stain that contains body fluids or tissues from more than one individual

3.2.7

mixed DNA profile

DNA profile generated from a mixed stain

Note 1 to entry: In many cases where a sample consists of a stain or body fluid deposits of multiple individuals, the mixed DNA cannot be isolated when the sample is acquired.

Note 2 to entry: Where the profile of one or more of the mixed DNA sample contributors is known, the mixture can be separated into its contributing DNA profiles. One of the processes is called mixture deconvolution. This involves analysing the mixture DNA profile and exploiting the probabilistic and genetic hereditary properties of DNA to separate the profiles.

3.2.8

fully designated locus

locus of which all positions are reliably typed

Note 1 to entry: The locus status of a fully designated locus is “Normal”.

3.2.9

partial locus

locus at which not all the alleles show up

3.2.10

partial DNA profile

DNA profile with partial loci or in which not all the loci targeted show up

Note 1 to entry: A DNA profile can be partial at the profile level, partial at the locus level or both.

3.2.11

DNA mobile processing unit

fully-functional DNA laboratory that is mobile

3.2.12

rapid DNA instrument

self-contained device that carries out a fully-automated DNA analysis of a DNA sample

3.3.1

Interpol DNA Database

central forensic DNA database to which all Interpol member states can submit forensic DNA profiles of unsolved crimes, criminals, missing persons or unknown human remains through their National Interpol Bureaus, both with classic DNA profile storage or search requests and through online DNA profile data transfers from their national DNA databases for automated searching

Note 1 to entry: Interpol runs also a separate Missing Persons DNA database (I-Familia) using family DNA comparison to identify unknown human remains.

3.3.2

Interpol Standard Set of Loci

ISSOL

set of STR loci defined by the Interpol DNA Monitoring Expert Group, which recommends for use as common DNA loci for forensic DNA analyses in all forensic DNA kits and with minimum loading criteria to input a profile in the Interpol DNA Database to enable worldwide comparability of STR profiles and thus uniform crime fighting worldwide by usage of forensic DNA technology

3.3.3

Interpol DNA Monitoring Expert Group

advisory board with senior experts from Interpol member states for creation of recommendations on the use of DNA in criminal and missing person investigations including creation of Interpol DNA profile interchange standards and forms as well as rules for the Interpol DNA Database

3.3.4

Prüm DNA Database Network

decentralized database network system originally developed by some EU member states, in which biometric data, such as forensic DNA profiles, can be compared online and in real time with DNA profile search queries between the Prüm partner states

Note 1 to entry: The Prüm network has not only been implemented in a legally binding manner by all EU member states through EU legal acts but has also been extended through bilateral and multilateral state agreements to become a globally functioning Prüm data network system for biometric online data exchange (e.g. Western Balkan states).

3.3.5

European Standard Set of loci

ESS

set of STR loci defined by the ENFSI DNA Working Group which is recommended for use as minimum and common DNA loci for forensic DNA analyses in all forensic DNA kits and with minimum loading criteria to input a profile in the Prüm DNA Database Network to enable European comparability of STR profiles

3.3.6

ENFSI DNA Working Group

working group that supports the aims and objectives of ENFSI in the area of DNA casework analysis including definition of quality and STR loci standards for possible international forensic DNA cooperation

3.3.7

request

message containing one or more DNA profiles to be searched or stored or updated in or removed from a DNA profile database

3.3.8

response

message containing one or more answers depending on request message

Note 1 to entry: Match results, non-match results, error messages, notification of storage or deletion or update.

3.4.1

power of discrimination

potential power of a genetic marker or set of markers to differentiate between any two individuals chosen at random

3.4.2

reference DNA profile

DNA profile of an identified person

3.4.3

target DNA profile

DNA profile contained in a request for comparison against a DNA profile database

3.4.4

exact match

outcome of a DNA search engine when all allele values of the compared loci are the same in two DNA profiles

3.4.5

rare allele value

allele value present in low frequency at a specific population and, therefore, much more significant than other alleles for identification purposes

3.4.6

wildcard

symbol substituting a rare allele value at a locus and matching any value at the corresponding locus in a DNA profile

Note 1 to entry: An asterisk is commonly used as a wildcard.

Note 2 to entry: Two different patterns can match in a wildcard search.

3.4.7

microvariant

allele containing an incomplete repeat unit or appearing to have values beyond a specified range

Note 1 to entry: Many STR markers are composed of a specific sequence of four nucleotides (called nucleus, core or repeat unit). The sequence of nucleotides is repeated in tandem a number of times which varies. When one of the repeat units is incomplete (e.g. shows three nucleotides instead of four), the allele is called a microvariant.

3.4.8

mismatch

outcome of a DNA search engine when only one difference, which involves a wildcard or a microvariant, is found in a comparison of two DNA profiles

3.4.9

near match

outcome of a DNA search engine when only one of all allele values of the compared loci is different in two DNA profiles

3.4.10

match

outcome of a DNA search engine that is either an exact match, a near match or a mismatch

3.4.11

non-match

outcome of a DNA search engine other than exact match, near match or mismatch

3.4.12

match quality

level of agreement between two DNA profiles

Note 1 to entry: Some DNA search engines use a likelihood ratio to quantify the match quality.

3.4.13

match count

number of identical loci found in comparison of two DNA profiles

3.4.14

adventitious match

match that happens by chance instead of having the same source or being linked by kinship

Note 1 to entry: In the case of DNA testing, not having enough distinguished characteristics (e.g. due to a partial DNA profile) can lead to adventitious matches. DNA search engine matches therefore always need forensic verification/validation for possible detection of adventitious matches.

3.4.15

candidate

DNA profile found in a DNA profile database satisfying the defined matching criteria against the target DNA profile

3.4.16

hit

candidate confirmed by a DNA examiner

Note 1 to entry: A"no-hit" is a candidate rebutted by a DNA examiner, for example, detected adventitious match.

Note 2 to entry: Validation is required to be carried out in line with forensic quality management requirements (e.g. accreditation standards).